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- [31] Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental DisorderBALKAN JOURNAL OF MEDICAL GENETICS, 2023, 26 (02) : 77 - 82Sager, G.论文数: 0 引用数: 0 h-index: 0机构: Kartal Dr Lutfi Kirdar City Hosp, Dept Pediat Neurol, Istanbul, Turkiye Kartal Dr Lutfi Kirdar City Hosp, Dept Pediat Neurol, Kartal Dr,Kartal,Semsi Denizer Ave, TR-34890 Istanbul, Turkiye Kartal Dr Lutfi Kirdar City Hosp, Dept Pediat Neurol, Istanbul, TurkiyeYukselmis, U.论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Kartal Dr Lutfi Kirdar City Hosp, Dept Pediat Intens Care Unit, Istanbul, Turkiye Kartal Dr Lutfi Kirdar City Hosp, Dept Pediat Neurol, Istanbul, TurkiyeGuzel, O.论文数: 0 引用数: 0 h-index: 0机构: Mediterranean Ketogen Diet Ctr, Izmir, Turkiye Kartal Dr Lutfi Kirdar City Hosp, Dept Pediat Neurol, Istanbul, TurkiyeTurkyilmaz, A.论文数: 0 引用数: 0 h-index: 0机构: Karadeniz Tech Univ, Fac Med, Dept Med Genet, Trabzon, Turkiye Kartal Dr Lutfi Kirdar City Hosp, Dept Pediat Neurol, Istanbul, TurkiyeAkcay, M.论文数: 0 引用数: 0 h-index: 0机构: Kartal Dr Lutfi Kirdar City Hosp, Dept Pediat Neurol, Istanbul, Turkiye Kartal Dr Lutfi Kirdar City Hosp, Dept Pediat Neurol, Istanbul, Turkiye
- [32] Broadening the spectrum of TAF4 related neurodevelopmental disorder (T4NDD)EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1060 - 1060Macmanus, Noel论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, Spain Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, SpainDiaz, Asuncion论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, Spain Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, SpainBaleri, Alicia Artigas论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Dept Genet, IIB Sant Pau, Barcelona, Spain Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, Spainde Miguel, Lucia Dougherty论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, Spain Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, SpainTuron-Vinas, Eulalia论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, Spain Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, SpainBoronat, Susana论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, Spain Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, SpainCusco, Ivon论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Dept Genet, IIB Sant Pau, Barcelona, Spain CIBERER, Inst Salud Carlos III, Barcelona, Spain Hosp Santa Creu & Sant Pau, Paediat Neurol, IIB Sant Pau, Barcelona, Spain
- [33] Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorderORPHANET JOURNAL OF RARE DISEASES, 2025, 20 (01)Li, Ming论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China Shanghai Key Lab Embryo Original Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Birth Defects & Rare Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R ChinaLin, Jingqi论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China Shanghai Key Lab Embryo Original Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Birth Defects & Rare Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R ChinaFei, Hongjun论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China Shanghai Key Lab Embryo Original Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Birth Defects & Rare Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R ChinaLiu, Jinyu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China Shanghai Key Lab Embryo Original Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Birth Defects & Rare Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R ChinaChen, Yiyao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China Shanghai Key Lab Embryo Original Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Birth Defects & Rare Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R ChinaHan, Xu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China Shanghai Key Lab Embryo Original Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Birth Defects & Rare Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R ChinaWang, Yanlin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China Shanghai Key Lab Embryo Original Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Birth Defects & Rare Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R ChinaWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China Shanghai Key Lab Embryo Original Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Birth Defects & Rare Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Fac Med Lab Sci, Coll Hlth Sci & Technol, Sch Med, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R ChinaHua, Renyi论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China Shanghai Key Lab Embryo Original Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Birth Defects & Rare Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R ChinaLi, Shuyuan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China Shanghai Key Lab Embryo Original Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Birth Defects & Rare Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Fac Med Lab Sci, Coll Hlth Sci & Technol, Sch Med, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R ChinaLi, Niu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China Shanghai Key Lab Embryo Original Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Birth Defects & Rare Dis, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Fac Med Lab Sci, Coll Hlth Sci & Technol, Sch Med, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Int Peace Matern & Child Hlth Hosp, Shanghai 200030, Peoples R China
- [34] Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case reportHELIYON, 2024, 10 (07)Tong, Jiao论文数: 0 引用数: 0 h-index: 0机构: Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R ChinaChen, Xu论文数: 0 引用数: 0 h-index: 0机构: Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R ChinaWang, Xin论文数: 0 引用数: 0 h-index: 0机构: Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R ChinaMen, Shuai论文数: 0 引用数: 0 h-index: 0机构: Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R ChinaLiu, Yuan论文数: 0 引用数: 0 h-index: 0机构: Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R ChinaSun, Xun论文数: 0 引用数: 0 h-index: 0机构: Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R ChinaYan, Dongmei论文数: 0 引用数: 0 h-index: 0机构: Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China 9 Qindongmen St, Lianyungang 222000, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R ChinaWang, Leilei论文数: 0 引用数: 0 h-index: 0机构: Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China 669 Qindongmen St, Lianyungang 222000, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China
- [35] Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental DisorderNEUROLOGY-GENETICS, 2024, 10 (05)Hildebrand, Michael S.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, Australia Royal Childrens Hosp, Murdoch Childrens Res Inst, Neurosci Grp, Parkville, Vic, Australia Royal Childrens Hosp, Dept Neurol, Parkville, Vic, Australia Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaBraden, Ruth O.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Speech & Language, Parkville, Vic, Australia Univ Melbourne, Dept Audiol & Speech Pathol, Carlton, Vic, Australia Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaLauretta, Mariana L.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Speech & Language, Parkville, Vic, Australia Univ Melbourne, Dept Audiol & Speech Pathol, Carlton, Vic, Australia Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, Australia论文数: 引用数: h-index:机构:Leventer, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Neurosci Grp, Parkville, Vic, Australia Univ Melbourne, Dept Paediat, Parkville, Vic, Australia Royal Childrens Hosp, Dept Neurol, Parkville, Vic, Australia Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaAnderson, Melinda论文数: 0 引用数: 0 h-index: 0机构: PURA Fdn Australia Ltd, Plenty, Vic, Australia Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaGoel, Himanshu论文数: 0 引用数: 0 h-index: 0机构: John Hunter Hosp, Hunter Genet, New Lambton Hts, NSW, Australia Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaBahlo, Melanie论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Populat Hlth & Immun Div, Walter & Eliza Hall Inst Med Res, Parkville, Vic, Australia Univ Melbourne, Dept Med Biol, Parkville, Vic, Australia Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaScheffer, Ingrid E.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, Australia Royal Childrens Hosp, Murdoch Childrens Res Inst, Neurosci Grp, Parkville, Vic, Australia Univ Melbourne, Dept Paediat, Parkville, Vic, Australia Royal Childrens Hosp, Dept Neurol, Parkville, Vic, Australia Royal Childrens Hosp, Florey Inst, Murdoch Childrens Res Inst, Parkville, Vic, Australia Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, Australia论文数: 引用数: h-index:机构:Janowski, Robert论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Struct Biol, German Res Ctr Environm Hlth, Neuherberg, Germany Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaNiessing, Dierk论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Struct Biol, German Res Ctr Environm Hlth, Neuherberg, Germany Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaMorgan, Angela T.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Speech & Language, Parkville, Vic, Australia Univ Melbourne, Dept Audiol & Speech Pathol, Carlton, Vic, Australia Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Dept Med, Heidelberg, Vic, Australia
- [36] Neurodevelopmental disorder caused by homozygous variant in NTNG2EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 199 - 200Safran, Amit论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Genet Inst, Soroka Med Ctr, Beer Sheva, Israel Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Beer Sheva, Israel论文数: 引用数: h-index:机构:Birk, Ohad Shmuel论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Genet Inst, Soroka Med Ctr, Beer Sheva, Israel Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Beer Sheva, Israel
- [37] A second report of recessive type COL4A1-related disorder: a novel homozygous missense variantCLINICAL DYSMORPHOLOGY, 2021, 30 (02) : 115 - 119Sabir, Ataf H.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens NHS Fdn Trust, Dept Clin Genet, Birmingham, W Midlands, England Birmingham Hlth Partners, Birmingham, W Midlands, England Univ Birmingham, Dept Med, Birmingham, W Midlands, England Birmingham Womens & Childrens NHS Fdn Trust, Dept Clin Genet, Birmingham, W Midlands, EnglandSingh, Ananya论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Dept Med, Birmingham, W Midlands, England Birmingham Womens & Childrens NHS Fdn Trust, Dept Clin Genet, Birmingham, W Midlands, EnglandElley, George论文数: 0 引用数: 0 h-index: 0机构: Ashford & St Peters NHS Trust, Dept Med, Fdn Doctor, Ashford, Kent, England Birmingham Womens & Childrens NHS Fdn Trust, Dept Clin Genet, Birmingham, W Midlands, EnglandWassemer, Evangeline论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens Hosp NHS Trust, Dept Paediat Neurol, Birmingham, W Midlands, England Birmingham Womens & Childrens NHS Fdn Trust, Dept Clin Genet, Birmingham, W Midlands, EnglandFoster, Katharine论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens Hosp NHS Trust, Dept Paediat Radiol, Birmingham, W Midlands, England Birmingham Womens & Childrens NHS Fdn Trust, Dept Clin Genet, Birmingham, W Midlands, EnglandSloman, Melissa论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter Genom Lab, Exeter, Devon, England Birmingham Womens & Childrens NHS Fdn Trust, Dept Clin Genet, Birmingham, W Midlands, EnglandLim, Derek论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens NHS Fdn Trust, Dept Clin Genet, Birmingham, W Midlands, England Birmingham Hlth Partners, Birmingham, W Midlands, England Univ Birmingham, Dept Med, Birmingham, W Midlands, England Birmingham Womens & Childrens NHS Fdn Trust, Dept Clin Genet, Birmingham, W Midlands, England
- [38] ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral PalsyNEUROPEDIATRICS, 2022, 53 (05) : 361 - 365Svantnerova, Jana论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Neurol 2, Bratislava, Slovakia Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Neurol 2, Bratislava, SlovakiaMinar, Michal论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Neurol 2, Bratislava, Slovakia Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Neurol 2, Bratislava, SlovakiaRadova, Silvia论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Pediat Neurol,Natl Inst Childrens Dis, Bratislava, Slovakia Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Neurol 2, Bratislava, SlovakiaKolnikova, Miriam论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Pediat Neurol,Natl Inst Childrens Dis, Bratislava, Slovakia Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Neurol 2, Bratislava, SlovakiaVlkovic, Peter论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Neurol 2, Bratislava, Slovakia Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Neurol 2, Bratislava, SlovakiaZech, Michael论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Tech Univ Munich, Sch Med, Inst Human Genet, Munich, Germany Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Neurol 2, Bratislava, Slovakia
- [39] Delineating the MAPK8IP3-related neurodevelopmental disorder reveals consistent variant specific phenotypesEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 449 - 449Bartolomaeus, Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Inst Human Genet, Med Ctr, Leipzg, Germany Univ Leipzig, Inst Human Genet, Med Ctr, Leipzg, GermanyAbou Jamra, Rami论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Inst Human Genet, Med Ctr, Leipzg, Germany Univ Leipzig, Inst Human Genet, Med Ctr, Leipzg, GermanyLemke, Johannes论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Inst Human Genet, Med Ctr, Leipzg, Germany Univ Leipzig, Inst Human Genet, Med Ctr, Leipzg, GermanyPlatzer, Konrad论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Inst Human Genet, Med Ctr, Leipzg, Germany Univ Leipzig, Inst Human Genet, Med Ctr, Leipzg, Germany
- [40] Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional casesAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (10) : 2602 - 2609Guo, Rose论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Pennsylvania, PA USA Childrens Hosp Philadelphia, Div Human Genet, Pennsylvania, PA USARippert, Alyssa L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Pennsylvania, PA USA Childrens Hosp Philadelphia, Div Human Genet, Pennsylvania, PA USACook, Edward B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Pennsylvania, PA USA Childrens Hosp Philadelphia, Div Human Genet, Pennsylvania, PA USAAlves, Cesar Augusto P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Radiol, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Human Genet, Pennsylvania, PA USABird, Lynne M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Rady Childrens Hosp San Diego, Dept Pediat, Div Dysmorphol Genet, San Diego, CA USA Childrens Hosp Philadelphia, Div Human Genet, Pennsylvania, PA USAIzumi, Kosuke论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Pennsylvania, PA USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA USA Univ Texas Southwestern Med Ctr, Dept Pediat, Div Genet & Metab, Dallas, TX USA 5323 Harry Hines Blvd, Dallas, TX 75390 USA Childrens Hosp Philadelphia, Div Human Genet, Pennsylvania, PA USA