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- [41] Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disordersPEDIATRIC RESEARCH, 2020, 88 (05) : 761 - 768Carey, Abigail S.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Div Pediat Crit Care Med, New York, NY 10027 USA Columbia Univ, Dept Pediat, New York, NY 10027 USA Columbia Univ, NewYork Presbyterian Morgan Stanley Childrens Hos, Vagelos Coll Phys & Surg, New York, NY 10027 USA Columbia Univ, Div Pediat Crit Care Med, New York, NY 10027 USASchacht, John P.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, New York, NY 10027 USA Columbia Univ, NewYork Presbyterian Morgan Stanley Childrens Hos, Vagelos Coll Phys & Surg, New York, NY 10027 USA Columbia Univ, Div Mol Genet, New York, NY USA Columbia Univ, Div Pediat Crit Care Med, New York, NY 10027 USAUmandap, Christine论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, New York, NY 10027 USA Columbia Univ, NewYork Presbyterian Morgan Stanley Childrens Hos, Vagelos Coll Phys & Surg, New York, NY 10027 USA Columbia Univ, Div Mol Genet, New York, NY USA Columbia Univ, Div Pediat Crit Care Med, New York, NY 10027 USAFasel, David论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, NewYork Presbyterian Morgan Stanley Childrens Hos, Vagelos Coll Phys & Surg, New York, NY 10027 USA Columbia Univ, Dept Biomed Informat, New York, NY USA Columbia Univ, Div Pediat Crit Care Med, New York, NY 10027 USAWeng, Chunhua论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, NewYork Presbyterian Morgan Stanley Childrens Hos, Vagelos Coll Phys & Surg, New York, NY 10027 USA Columbia Univ, Dept Biomed Informat, New York, NY USA Columbia Univ, Div Pediat Crit Care Med, New York, NY 10027 USACappell, Joshua论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Div Pediat Crit Care Med, New York, NY 10027 USA Columbia Univ, Dept Pediat, New York, NY 10027 USA Columbia Univ, NewYork Presbyterian Morgan Stanley Childrens Hos, Vagelos Coll Phys & Surg, New York, NY 10027 USA Columbia Univ, Div Pediat Crit Care Med, New York, NY 10027 USAChung, Wendy K.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, New York, NY 10027 USA Columbia Univ, NewYork Presbyterian Morgan Stanley Childrens Hos, Vagelos Coll Phys & Surg, New York, NY 10027 USA Columbia Univ, Div Mol Genet, New York, NY USA Columbia Univ, Div Pediat Crit Care Med, New York, NY 10027 USAKernie, Steven G.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Div Pediat Crit Care Med, New York, NY 10027 USA Columbia Univ, Dept Pediat, New York, NY 10027 USA Columbia Univ, NewYork Presbyterian Morgan Stanley Childrens Hos, Vagelos Coll Phys & Surg, New York, NY 10027 USA Columbia Univ, Div Pediat Crit Care Med, New York, NY 10027 USA
- [42] Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disordersPediatric Research, 2020, 88 : 761 - 768Abigail S. Carey论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Division of Pediatric Critical Care MedicineJohn P. Schacht论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Division of Pediatric Critical Care MedicineChristine Umandap论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Division of Pediatric Critical Care MedicineDavid Fasel论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Division of Pediatric Critical Care MedicineChunhua Weng论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Division of Pediatric Critical Care MedicineJoshua Cappell论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Division of Pediatric Critical Care MedicineWendy K. Chung论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Division of Pediatric Critical Care MedicineSteven G. Kernie论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Division of Pediatric Critical Care Medicine
- [43] Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disordersACTA NEUROLOGICA SCANDINAVICA, 2022, 145 (01): : 63 - 72Sainio, Markus T.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, Finland Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, FinlandAaltio, Juho论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, Finland Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, FinlandHyttinen, Virva论文数: 0 引用数: 0 h-index: 0机构: VATT Inst Econ Res, Helsinki, Finland Univ Eastern Finland, Dept Hlth & Social Management, Kuopio, Finland Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, FinlandKortelainen, Mika论文数: 0 引用数: 0 h-index: 0机构: VATT Inst Econ Res, Helsinki, Finland Turku Sch Econ & Business Adm, Dept Econ, Turku, Finland Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, FinlandOjanen, Simo论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Vet Biosci, Fac Vet Med, Helsinki, Finland Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, FinlandPaetau, Anders论文数: 0 引用数: 0 h-index: 0机构: HUSLAB, Dept Pathol, Helsinki, Finland Univ Helsinki, Helsinki, Finland Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, FinlandTienari, Pentti论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Clin Neurosci, Neurol, Helsinki, Finland Helsinki Univ Hosp, Helsinki, Finland Univ Helsinki, Translat Immunol Res Program, Fac Med, Helsinki, Finland Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, Finland论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Tyynismaa, Henna论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, Finland Univ Helsinki, Dept Med & Clin Genet, Helsinki, Finland Univ Helsinki, Helsinki Inst Life Sci, Neurosci Ctr, Helsinki, Finland Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, Finland
- [44] Whole Exome Sequencing yield across heterogeneous neurologic phenotypesEUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 : 355 - 355Kokosali, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Med Sch, Neurogenet Lab, Iraklion, Greece Univ Crete, Med Sch, Neurogenet Lab, Iraklion, GreeceTsiverdis, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Med Sch, Neurogenet Lab, Iraklion, Greece Univ Crete, Med Sch, Neurogenet Lab, Iraklion, GreeceMathioudakis, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Med Sch, Neurogenet Lab, Iraklion, Greece Univ Crete, Med Sch, Neurogenet Lab, Iraklion, GreeceSpilioti, M.论文数: 0 引用数: 0 h-index: 0机构: Aristotle Univ Thessaloniki, Thessaloniki, Greece Univ Crete, Med Sch, Neurogenet Lab, Iraklion, GreeceSkoula, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Med Sch, Neurogenet Lab, Iraklion, Greece Univ Crete, Med Sch, Neurogenet Lab, Iraklion, GreeceEvangeliou, A.论文数: 0 引用数: 0 h-index: 0机构: Aristotle Univ Thessaloniki, Thessaloniki, Greece Univ Crete, Med Sch, Neurogenet Lab, Iraklion, GreeceZaganas, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Med Sch, Neurogenet Lab, Iraklion, Greece Univ Crete, Med Sch, Neurogenet Lab, Iraklion, Greece
- [45] Whole Exome Sequencing of Patients with Adult-Onset Evans Syndrome: A Cohort of 80 PatientsBLOOD, 2023, 142Crickx, Etienne论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, France Henri Mondor Hosp, APHP, Internal Med Dept, Creteil, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceFadlallah, Jehane论文数: 0 引用数: 0 h-index: 0机构: St Louis Hosp, AP HP, Serv Immunopathol Clin, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceCheminant, Morgane论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Dept Hematol, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceRosain, Jeremie论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades, CEDI, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceDion, Jeremie论文数: 0 引用数: 0 h-index: 0机构: Toulouse Univ Hosp, Toulouse, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceMalphettes, Marion论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceBoutboul, David论文数: 0 引用数: 0 h-index: 0机构: St Louis Hosp, AP HP, Serv Immunopathol Clin, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceGourguechon, Clement论文数: 0 引用数: 0 h-index: 0机构: Amiens Univ Hosp, Amiens, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceEbbo, Mikael论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Hop La Timone, Marseille, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceRonchetti, Anne Marie论文数: 0 引用数: 0 h-index: 0机构: CH Sud Francilien, Hematol Dept, Corbeil Essonnes, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceMoulinet, Thomas论文数: 0 引用数: 0 h-index: 0机构: CHU Nancy, Nancy, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceGobert, Delphine论文数: 0 引用数: 0 h-index: 0机构: St Antoine Hosp, APHP, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceHadjadj, Jerome论文数: 0 引用数: 0 h-index: 0机构: St Antoine Hosp, APHP, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceGraveleau, Julie论文数: 0 引用数: 0 h-index: 0机构: St Nazaire Hosp, St Nazaire, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceStolzenberg, Marie-Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceGodeau, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Henri Mondor Hosp, APHP, Internal Med Dept, Creteil, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceGalicier, Lionel论文数: 0 引用数: 0 h-index: 0机构: St Louis Hosp, AP HP, Serv Immunopathol Clin, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceViallard, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: Haut Leveque Hosp, Serv Med Interne, Pessac, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceAudia, Sylvain论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Dijon, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceOksenhendler, Eric论文数: 0 引用数: 0 h-index: 0机构: St Louis Hosp, AP HP, Serv Immunopathol Clin, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceFieschi, Claire论文数: 0 引用数: 0 h-index: 0机构: St Louis Hosp, AP HP, Serv Immunopathol Clin, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceHermine, Olivier论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Dept Hematol, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceMahevas, Matthieu论文数: 0 引用数: 0 h-index: 0机构: Henri Mondor Hosp, APHP, Internal Med Dept, Creteil, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceMichel, Marc论文数: 0 引用数: 0 h-index: 0机构: Henri Mondor Hosp, APHP, Internal Med Dept, Creteil, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, FranceLaucat, Frederic Rieux论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, France Univ Paris Cite, Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR U1163, Paris, France
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- [47] Whole exome sequencing in patients with congenital cataractsACTA OPHTHALMOLOGICA, 2015, 93Liskova, P.论文数: 0 引用数: 0 h-index: 0
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- [49] Whole Exome Sequencing in Patients With Mullerian AplasiaREPRODUCTIVE SCIENCES, 2015, 22 : 362A - 363AFalkenstrom, Alli T.论文数: 0 引用数: 0 h-index: 0机构: Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USA Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USAChorich, Lynn P.论文数: 0 引用数: 0 h-index: 0机构: Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USA Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USAKim, Hyung-Goo论文数: 0 引用数: 0 h-index: 0机构: Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USA Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USASullivan, Megan E.论文数: 0 引用数: 0 h-index: 0机构: Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USA Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USAKnight, James R.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Genet, New Haven, CT USA Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USATaylor, Hugh S.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Dept OB GYN, New Haven, CT USA Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USAChoi, Justin论文数: 0 引用数: 0 h-index: 0机构: Georgia Regents Univ, Dept Biostat & Epidemiol, Augusta, GA USA Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USAPhillips, John A., III论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Dept Pediat, Div Med Genet & Genom Med, Nashville, TN USA Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USALayman, Lawrence C.论文数: 0 引用数: 0 h-index: 0机构: Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USA Georgia Regents Univ, Dept Neurosci & Regenerat Med, Augusta, GA USA Georgia Regents Univ, Dept OB GYN, Reprod Endocrinol Infertil Genet, Sect, Augusta, GA USA
- [50] Whole exome sequencing in patients with congenital myopathiesNEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 895 - 895Zaharieva, I. T.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandColombo, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Milan, Italy UCL, London, EnglandSframeli, M.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandSigurosson, J. H.论文数: 0 引用数: 0 h-index: 0机构: DeCODE Genet, Reykjavik, Iceland UCL, London, EnglandFeng, L.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandPhadke, R.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandSewry, C. A.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandMorgan, J. E.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, England