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- [21] Characterization of an Indian congenital myasthenic syndrome cohort by whole exome sequencingNEUROMUSCULAR DISORDERS, 2018, 28 : S52 - S52Balaraju, S.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandTopf, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandVeeramani, P.论文数: 0 引用数: 0 h-index: 0机构: NIMHANS, Bengaluru, India Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandVengalil, S.论文数: 0 引用数: 0 h-index: 0机构: NIMHANS, Bengaluru, India Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandPolavarapu, K.论文数: 0 引用数: 0 h-index: 0机构: NIMHANS, Bengaluru, India Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandNashi, S.论文数: 0 引用数: 0 h-index: 0机构: NIMHANS, Bengaluru, India Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandKirschner, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Freiburg, Germany Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHorvath, R.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandAtchayaram, N.论文数: 0 引用数: 0 h-index: 0机构: NIMHANS, Bengaluru, India Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandLochmueller, H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
- [22] Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid DysgenesisTHYROID, 2022, 32 (05) : 486 - 495Larrivee-Vanier, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, Canada Univ Montreal, Dept Biochem, Montreal, PQ, Canada Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, CanadaJean-Louis, Martineau论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, Canada Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, CanadaMagne, Fabien论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, Canada Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, CanadaBui, Helen论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Dept Endocrinol, Montreal, PQ, Canada Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, CanadaRouleau, Guy A.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, Canada论文数: 引用数: h-index:机构:Samuels, Mark E.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, Canada Univ Montreal, Dept Med, Montreal, PQ, Canada Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, CanadaKibar, Zoha论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, Canada Univ Montreal, Dept Neurosci, Montreal, PQ, Canada Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, Canada论文数: 引用数: h-index:机构:Deladoey, Johnny论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, Canada Univ Montreal, Dept Pediat, Montreal, PQ, Canada Pediat Inst Southern Switzerland, Bellinzona, Switzerland Univ Southern Switzerland, Fac Biomed Sci, Lugano, Switzerland Univ Svizzera Italiana, Fac Sci Biomed, Campus Est, CH-6900 Lugano, Switzerland Ctr Hosp Univ Sainte Justine, Res Ctr, Quebec City, PQ, Canada
- [23] Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypesNeurological Sciences, 2021, 42 : 2819 - 2827Marcin M. Machnicki论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyValeria Guglielmi论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyElia Pancheri论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyFrancesca Gualandi论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyLorenzo Verriello论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyKatarzyna Pruszczyk论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyJoanna Kosinska论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyAntonella Sangalli论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyMalgorzata Rydzanicz论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyMaria Grazia Romanelli论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyMarcella Neri论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyRafal Ploski论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyPaola Tonin论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyGiuliano Tomelleri论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyTomasz Stoklosa论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of ImmunologyGaetano Vattemi论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of Immunology
- [24] Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypesNEUROLOGICAL SCIENCES, 2021, 42 (07) : 2819 - 2827Machnicki, Marcin M.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Immunol, Warsaw, Poland Med Univ Warsaw, Dept Immunol, Warsaw, PolandGuglielmi, Valeria论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Sect Clin Neurol, Dept Neurosci Biomed & Movement Sci, Verona, Italy Med Univ Warsaw, Dept Immunol, Warsaw, Poland论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Verriello, Lorenzo论文数: 0 引用数: 0 h-index: 0机构: Azienda Sanitaria Univ Integrata Udine, Dept Neurol Sci, Neurol Clin, Udine, Italy Med Univ Warsaw, Dept Immunol, Warsaw, PolandPruszczyk, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Immunol, Warsaw, Poland Med Univ Warsaw, Dept Immunol, Warsaw, Poland论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Romanelli, Maria Grazia论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Sect Biol & Genet, Dept Neurosci Biomed & Movement Sci, Verona, Italy Med Univ Warsaw, Dept Immunol, Warsaw, Poland论文数: 引用数: h-index:机构:Ploski, Rafal论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Warsaw, Poland Med Univ Warsaw, Dept Immunol, Warsaw, PolandTonin, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Sect Clin Neurol, Dept Neurosci Biomed & Movement Sci, Verona, Italy Med Univ Warsaw, Dept Immunol, Warsaw, PolandTomelleri, Giuliano论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Sect Clin Neurol, Dept Neurosci Biomed & Movement Sci, Verona, Italy Med Univ Warsaw, Dept Immunol, Warsaw, PolandStoklosa, Tomasz论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Immunol, Warsaw, Poland Med Univ Warsaw, Dept Immunol, Warsaw, Poland论文数: 引用数: h-index:机构:
- [25] Whole exome and whole genome sequencingCURRENT OPINION IN PEDIATRICS, 2011, 23 (06) : 594 - 600Bick, David论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pediat, Div Genet, Milwaukee, WI 53226 USA Med Coll Wisconsin, Dept Pediat, Div Genet, Milwaukee, WI 53226 USADimmock, David论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pediat, Div Genet, Milwaukee, WI 53226 USA Med Coll Wisconsin, Dept Pediat, Div Genet, Milwaukee, WI 53226 USA
- [26] Whole exome sequencing at the Institute of Myology in the context of the Myocapture project to identify novel genes of myopathiesNEUROMUSCULAR DISORDERS, 2015, 25 : S299 - S299Nelson, I.论文数: 0 引用数: 0 h-index: 0机构: UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, FranceBenYaou, R.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere Paris Est, AP HP, Ctr Reference Pathol Neuromusculaire, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, FranceNectoux, J.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Cochin Broca Hotel Dieu, AP HP, Lab Biochim & Genet Mol, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, FranceMasson, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Plateforme Bioinformat, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, FranceLeturq, F.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Cochin Broca Hotel Dieu, AP HP, Lab Biochim & Genet Mol, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, FranceRichard, P.论文数: 0 引用数: 0 h-index: 0机构: UF Cardiogenet & Myogenet, Serv Biochim Metab, AP HP, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, FranceStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere Paris Est, AP HP, Ctr Reference Pathol Neuromusculaire, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, FranceBehin, A.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere Paris Est, AP HP, Ctr Reference Pathol Neuromusculaire, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, FranceLaforet, P.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere Paris Est, AP HP, Ctr Reference Pathol Neuromusculaire, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, FranceAllamand, V.论文数: 0 引用数: 0 h-index: 0机构: UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, FranceEymard, B.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere Paris Est, AP HP, Ctr Reference Pathol Neuromusculaire, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, FranceBonne, G.论文数: 0 引用数: 0 h-index: 0机构: UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, France UPMC, Inserm UMRS 974, CNRS FRE3617, Ctr Res Myol, Paris, France
- [27] Whole Exome Sequencing in Patients with White Matter AbnormalitiesANNALS OF NEUROLOGY, 2016, 79 (06) : 1031 - 1037Vanderver, Adeline论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USA Childrens Natl Med Ctr, Med Genet Res Ctr, Washington, DC 20010 USA George Washington Univ, Sch Med & Hlth Sci, Washington, DC 20052 USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USASimons, Cas论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAHelman, Guy论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USA Childrens Natl Med Ctr, Med Genet Res Ctr, Washington, DC 20010 USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USACrawford, Joanna论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAWolf, Nicole I.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam Med Ctr, Dept Child Neurol, Amsterdam, Netherlands Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USABernard, Genevieve论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Pediat, Montreal, PQ H3H 1P3, Canada McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Neurol, Montreal, PQ H3H 1P3, Canada McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Neurosurg, Montreal, PQ H3H 1P3, Canada Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAPizzino, Amy论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USASchmidt, Johanna L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USA Childrens Natl Med Ctr, Med Genet Res Ctr, Washington, DC 20010 USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USATakanohashi, Asako论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Med Genet Res Ctr, Washington, DC 20010 USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAMiller, David论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia Univ Melbourne, Ctr Canc Res, Parkville, Vic 3052, Australia Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAKhouzam, Amirah论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USARajan, Vani论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USARamos, Erica论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAChowdhury, Shimul论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAHambuch, Tina论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USARu, Kelin论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USABaillie, Gregory J.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAGrimmond, Sean M.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia Univ Melbourne, Ctr Canc Res, Parkville, Vic 3052, Australia Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USACaldovic, Ljubica论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Med Genet Res Ctr, Washington, DC 20010 USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USADevaney, Joseph论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Med Genet Res Ctr, Washington, DC 20010 USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USABloom, Miriam论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Dept Pediat, Washington, DC 20010 USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAEvans, Sarah H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Dept Phys Med & Rehabil, Washington, DC 20010 USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAMurphy, Jennifer L. P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAMcNeill, Nathan论文数: 0 引用数: 0 h-index: 0机构: Baylor Res Inst, Inst Metab Dis, Dallas, TX USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAFogel, Brent L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USASchiffmann, Raphael论文数: 0 引用数: 0 h-index: 0机构: Baylor Res Inst, Inst Metab Dis, Dallas, TX USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USAvan der Knaap, Marjo S.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam Med Ctr, Dept Child Neurol, Amsterdam, Netherlands Vrije Univ Amsterdam, Dept Funct Genom, Amsterdam, Netherlands Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USATaft, Ryan J.论文数: 0 引用数: 0 h-index: 0机构: George Washington Univ, Sch Med & Hlth Sci, Washington, DC 20052 USA Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia Illumina Inc, San Diego, CA USA Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USA
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