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- [21] Evaluation of genotype-phenotype correlations in neurofibromatosis type 1JOURNAL OF MEDICAL GENETICS, 2003, 40 (10)Castle, B论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesBaser, ME论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesHuson, SM论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCooper, DN论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesUpadhyaya, M论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
- [22] Genotype-phenotype correlations in MYCN-related Feingold syndromeHUMAN MUTATION, 2008, 29 (09) : 1125 - 1132Marcelis, Carlo L. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsHol, Frans A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsGraham, Gail E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsRieu, Paul N. M. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat Surg, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsKellermayer, Richard论文数: 0 引用数: 0 h-index: 0机构: Univ Pecs, Dept Med Genet & Child Dev, Pecs, Hungary Baylor Coll Med, Sect Pediat Gastroenterol, Houston, TX 77030 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsMeijer, Rowdy P. P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsLugtenberg, Dorien论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsScheffer, Hans论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlandsvan Bokhoven, Hans论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsBrunner, Han G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlandsde Brouwer, Arjan P. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
- [23] Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsBRAIN, 2022, : 2991 - 3009Johannesen, Katrine M.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, Denmark Univ Southern Denmark, Inst Reg Hlth Serv, DK-5230 Odense, Denmark Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkLiu, Yuanyuan论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkKoko, Mahmoud论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkGjerulfsen, Cathrine E.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, Denmark Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkSonnenberg, Lukas论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, D-72072 Tubingen, Germany Univ Tubingen, Inst Neurobiol, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkSchubert, Julian论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkFenger, Christina D.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, Denmark Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkEltokhi, Ahmed论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkRannap, Maert论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkKoch, Nils A.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Neurobiol, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkLauxmann, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, D-72072 Tubingen, Germany Univ Tubingen, Inst Neurobiol, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkKrueger, Johanna论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkKegele, Josua论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkCanafoglia, Laura论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurologio Carlo Besta, Dept Diagnost & Technol, I-20125 Milan, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkFranceschetti, Silvana论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurologio Carlo Besta, Dept Diagnost & Technol, I-20125 Milan, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkMayer, Thomas论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kleinwachau, D-01454 Dresden, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkRebstock, Johannes论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kleinwachau, D-01454 Dresden, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkZacher, Pia论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kleinwachau, D-01454 Dresden, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkRuf, Susanne论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat Neurol & Dev Med, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkAlber, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat Neurol & Dev Med, D-72072 Tubingen, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkSterbova, Katalin论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Child Neurol, Prague 10000, Czech Republic Univ Hosp Motol, Prague 10000, Czech Republic Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, Denmark论文数: 引用数: h-index:机构:Vlckova, Marketa论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Child Neurol, Prague 10000, Czech Republic Univ Hosp Motol, Prague 10000, Czech Republic Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkLemke, Johannes R.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig Hosp & Clin, Inst Human Genet, D-4275 Leipzig, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkPlatzer, Konrad论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig Hosp & Clin, Inst Human Genet, D-4275 Leipzig, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkKrey, Ilona论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig Hosp & Clin, Inst Human Genet, D-4275 Leipzig, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkHeine, Constanze论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig Hosp & Clin, Inst Human Genet, D-4275 Leipzig, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ, Univ Clin, Inst Human Genet, D-40210 Dusseldorf, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkKroell-Seger, Judith论文数: 0 引用数: 0 h-index: 0机构: Clin Lengg, Childrens Dept, Swiss Epilepsy Ctr, CH-8001 Zurich, Switzerland Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkLund, Caroline论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Natl Ctr Rare Epilepsy Related Disorders, N-0001 Oslo, Norway Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, Denmark论文数: 引用数: h-index:机构:Au, P. Y. Billie论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp Res Inst, Dept Med Genet, Calgary, AB T6G 2T4, Canada Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkRho, Jong M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Sect Pediat Neurol, Calgary, AB T2P 0A1, Canada Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkHo, Alice W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Sect Pediat Neurol, Calgary, AB T2P 0A1, Canada Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkMasnada, Silvia论文数: 0 引用数: 0 h-index: 0机构: V Buzzi Childrens Hosp, Dept Child Neurol, I-20125 Milan, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkVeggiotti, Pierangelo论文数: 0 引用数: 0 h-index: 0机构: V Buzzi Childrens Hosp, Dept Child Neurol, I-20125 Milan, Italy Univ Milan, L Sacco Dept Biomed & Clin Sci, I-20157 Milan, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkGiordano, Lucio论文数: 0 引用数: 0 h-index: 0机构: Civilian Hosp, Child Neuropsychiat Unit, I-25100 Brescia, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkAccorsi, Patrizia论文数: 0 引用数: 0 h-index: 0机构: Civilian Hosp, Child Neuropsychiat Unit, I-25100 Brescia, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkHoei-Hansen, Christina E.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Dept Pediat, DK-2200 Copenhagen, Denmark Univ Copenhagen, Dept Clin Med, DK-2200 Copenhagen, Denmark Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16121 Genoa, Italy IRCCS G Gaslini Inst, I-16121 Genoa, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkZara, Federico论文数: 0 引用数: 0 h-index: 0机构: IRCCS G Gaslini Inst, I-16121 Genoa, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkVerhelst, Helene论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Pediat, Divisu Pediat Neurol, B-9042 Ghent, Belgium Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkVerhoeven, Judith S.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe Maastricht Univ Med Ctr, Acad Ctr Epileptol, NL-5591 Heeze, Netherlands Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkBraakman, Hilde M. H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Amalia Childrens Hosp, Dept Pediat Neurol, NL-6525 Nijmegen, Netherlands Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, Denmarkvan der Zwaag, Bert论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, NL-3553 Utrecht, Netherlands Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkHarder, Aster V. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, NL-3553 Utrecht, Netherlands Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkBrilstra, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, NL-3553 Utrecht, Netherlands Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkPendziwiat, Manuela论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Schleswig Holstein, Dept Neuropediat, Campus Kiel, D-24106 Kiel, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkLebon, Sebastian论文数: 0 引用数: 0 h-index: 0机构: Lausanne Univ Hosp CHUV, Woman Mother Child Dept, Pediat Neurol & Neurorehabil Unit, CH-1000 Lausanne, Switzerland Univ Lausanne, CH-1000 Lausanne, Switzerland Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, DenmarkVaccarezza, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Italiano Buenos Aires, Dept Pediat Neurol, C1428, Buenos Aires, Argentina Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, DK-4293 Dianalund, Denmark
- [24] Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disordersORPHANET JOURNAL OF RARE DISEASES, 2022, 17 (01)Borgia, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyBaldassari, Simona论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyPedemonte, Nicoletta论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyAlkhunaizi, Ebba论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, North York Gen Hosp, Dept Genet, Toronto, ON, Canada Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyD'Onofrio, Gianluca论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyTortora, Domenico论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Neuroradiol Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyCali, Elisa论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London WC1N 3BG, England Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyScudieri, Paolo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyBalagura, Ganna论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyMusante, Ilaria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyDiana, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyPedemonte, Marina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyVari, Maria Stella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyIacomino, Michele论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyRiva, Antonella论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyChimenz, Roberto论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Dept Human Pathol Adult & Dev Age Gaetano Barresi, Unit Pediat Nephrol & Dialysis, Via Consolare Valeria 1, I-98125 Messina, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyMangano, Giuseppe D.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dept ProMISE G DAlessandro, Palermo, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyMohammadi, Mohammad Hasan论文数: 0 引用数: 0 h-index: 0机构: Zabol Univ Med Sci, Dept Pediat, Zabol, Iran Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyToosi, Mehran Beiraghi论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Ghaem Hosp, Pediat Neurol Dept, Mashhad, Razavi Khorasan, Iran Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyAshrafzadeh, Farah论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Fac Med, Dept Pediat, Mashhad, Razavi Khorasan, Iran Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyImannezhad, Shima论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Ghaem Hosp, Pediat Neurol Dept, Mashhad, Razavi Khorasan, Iran Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyKarimiani, Ehsan Ghayoor论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, Mol & Clin Sci Inst, Cranmer Terrace, London SW17 0RE, England Islamic Azad Univ, Innovat Med Res Ctr, Mashhad Branch, Mashhad, Razavi Khorasan, Iran Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyAccogli, Andrea论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Dept Specialized Med, Div Med Genet,Hlth Ctr MUHC, Montreal, PQ H4A 3J1, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalySchiaffino, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Gen & Specialist Pediat Sci, Pediat Clin & Endocrinol Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyMaghnie, Mohamad论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy Univ Genoa, Dept Gen & Specialist Pediat Sci, Pediat Clin & Endocrinol Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalySoler, Miguel Angel论文数: 0 引用数: 0 h-index: 0机构: Italian Inst Technol, Computat Modelling Nanoscale & Biophys Syst Lab, I-16163 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyEchiverri, Karl论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Dept Neurol, Lexington, KY 40506 USA Univ Kentucky, Dept Ophthalmol, Lexington, KY 40506 USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyAbrams, Charles K.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Coll Med, Dept Neurol & Rehabil, Chicago, IL 60607 USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy论文数: 引用数: h-index:机构:Maroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London WC1N 3BG, England Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London WC1N 3BG, England Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyZara, Federico论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy IRCCS Ist Giannina Gaslini, Unit Med Genet, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalyFiorillo, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, ItalySalpietro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London WC1N 3BG, England Univ Aquila, Dept Biotechnol & Appl Clin Sci, I-67100 Laquila, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy
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P.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Pharmacol & Toxicol, Birmingham, AL 35294 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyHuber, Hannes论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Theodor Boveri Inst, Dept Biochem, Bioctr, D-97070 Wurzburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyMurry, Jaclyn B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Clin Genom Ctr, Los Angeles, CA USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyAbramson, Jeff论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Physiol, Los Angeles, CA 90024 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyAlthoff, Thorsten论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Physiol, Los Angeles, CA 90024 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBanka, Siddharth论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Hlth Innovat Manchester, Manchester, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester, Lancs, England Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBaynam, Gareth论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Fac Med & Hlth Sci, Perth, WA, Australia King Edward Mem Hosp, Western Australian Register Dev Anomalies, Perth, WA, Australia Telethon Kids Inst, Perth, WA, Australia Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany论文数: 引用数: h-index:机构:Beleza-Meireles, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol & Weston, Clin Genet Dept, Bristol, Avon, England Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBenke, Paul J.论文数: 0 引用数: 0 h-index: 0机构: Joe DiMaggio Childrens Hosp, Hollywood, FL USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBerland, Siren论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Med Genet, N-5021 Bergen, Norway Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBierhals, Tatjana论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBilan, Frederic论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Poitiers, Dept Med Genet, Poitiers, France Univ Poitiers, Lab Neurosci Clin & Expt, INSERM U1084, Poitiers, France Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBindoff, Laurence A.论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Med K1, Bergen, Norway Haukeland Hosp, Dept Neurol, Bergen, Norway Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBraathen, Geir Julius论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, Skien, Norway Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBusk, Oyvind L.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, Skien, Norway Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyChenbhanich, Jirat论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyDenecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Eppendorf, Dept Pediat, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyEscobar, Luis F.论文数: 0 引用数: 0 h-index: 0机构: Peyton Manning Childrens Hosp, Ascens Hlth, Indianapolis, IN USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyEstes, Caroline论文数: 0 引用数: 0 h-index: 0机构: Peyton Manning Childrens Hosp, Ascens Hlth, Indianapolis, IN USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyFleischer, Julie论文数: 0 引用数: 0 h-index: 0机构: Southern 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USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyHouge, Gunnar论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Med Genet, N-5021 Bergen, Norway Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyJackson, Adam论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Hlth Innovat Manchester, Manchester, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester, Lancs, England Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyKellogg, Laura论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Sacramento, Sacramento, CA USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Hop Pitie La Salpetriere, Assistance Publ Hop Paris, Dept Genet, Paris, France Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyKiraly-Borri, Catherine论文数: 0 引用数: 0 h-index: 0机构: 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AL 35294 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyPrescott, Trine论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, Skien, Norway Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyRajabi, Farrah论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyRandrianaivo, Hanitra论文数: 0 引用数: 0 h-index: 0机构: CHU La Reunion, GHSR, UF Genet Med, St Pierre, La Reunion, France Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyReiter, Simone F.论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Med Genet, N-5021 Bergen, Norway Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanySchuurs-Hoeijmakers, Janneke论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyShieh, Perry B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany
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- [30] Genotype-phenotype correlations in RHOBTB2- associated neurodevelopmental disordersGENETICS IN MEDICINE, 2023, 25 (08)Langhammer, Franziska论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Dept Human Genet, Inselspital Bern, Bern, Switzerland Univ Bern, Dept Biomed Res DBMR, Bern, Switzerland Univ Bern, Dept Human Genet, Inselspital Bern, Bern, SwitzerlandMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Univ Bern, Dept Human Genet, Inselspital Bern, Bern, SwitzerlandBadar, Rueda论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Dept Human Genet, Inselspital Bern, Bern, Switzerland Univ Bern, Dept Biomed Res DBMR, Bern, Switzerland Univ Bern, Dept Human Genet, Inselspital Bern, Bern, SwitzerlandGregor, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Dept Human Genet, Inselspital Bern, Bern, Switzerland Univ Bern, Dept Biomed Res DBMR, Bern, Switzerland Univ Bern, Dept Human Genet, Inselspital Bern, Bern, SwitzerlandRochman, Michelle论文数: 0 引用数: 0 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