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- [22] Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal DisordersCLINICAL GENETICS, 2025,Yavas, Cuneyd论文数: 0 引用数: 0 h-index: 0机构: Biruni Univ, Dept Mol Biol & Genet, Istanbul, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeArvas, Yunus Emre论文数: 0 引用数: 0 h-index: 0机构: Van Yuzuncu Yil Univ, Dept Mol Biol & Genet, Van, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeDogan, Mustafa论文数: 0 引用数: 0 h-index: 0机构: Basaksehir Cam & Sakura City Hosp, Genet Dis Assessment Ctr, Istanbul, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeGezdirici, Alper论文数: 0 引用数: 0 h-index: 0机构: Basaksehir Cam & Sakura City Hosp, Genet Dis Assessment Ctr, Istanbul, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeAslan, Elif Sibel论文数: 0 引用数: 0 h-index: 0机构: Biruni Univ, Dept Mol Biol & Genet, Istanbul, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeKarapapak, Murat论文数: 0 引用数: 0 h-index: 0机构: Basaksehir Cam & Sakura City Hosp, Eye Dis, Istanbul, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeBaris, Savas论文数: 0 引用数: 0 h-index: 0机构: Aydin Obstet & Gynecol Hosp, Genet Dis Diag Ctr, Aydin, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeEroz, Recep论文数: 0 引用数: 0 h-index: 0机构: Aksaray Univ, Med Fac, Dept Med Genet, Aksaray, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, Turkiye
- [23] Identification of candidate gene variants for autism spectrum disorders in Slovak population using whole exome sequencingEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 487 - 487Repiska, Gabriela论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Inst Physiol, Fac Med, Bratislava, Slovakia Comenius Univ, Inst Physiol, Fac Med, Bratislava, SlovakiaWachsmannova, Lenka论文数: 0 引用数: 0 h-index: 0机构: GHC Genet SK, Lab Genom Med, Bratislava, Slovakia Comenius Univ, Inst Physiol, Fac Med, Bratislava, SlovakiaKonecny, Michal论文数: 0 引用数: 0 h-index: 0机构: GHC Genet SK, Lab Genom Med, Bratislava, Slovakia Comenius Univ, Inst Physiol, Fac Med, Bratislava, SlovakiaKrasnanska, Gabriela论文数: 0 引用数: 0 h-index: 0机构: GHC Genet SK, Lab Genom Med, Bratislava, Slovakia Comenius Univ, Inst Physiol, Fac Med, Bratislava, SlovakiaBaldovic, Marian论文数: 0 引用数: 0 h-index: 0机构: GHC Genet SK, Lab Genom Med, Bratislava, Slovakia Comenius Univ, Inst Physiol, Fac Med, Bratislava, SlovakiaLakatosova, Silvia论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Inst Physiol, Fac Med, Bratislava, Slovakia Comenius Univ, Inst Physiol, Fac Med, Bratislava, SlovakiaCelusakova, Hana论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Inst Physiol, Fac Med, Bratislava, Slovakia Comenius Univ, Inst Physiol, Fac Med, Bratislava, SlovakiaKopcikova, Maria论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Inst Physiol, Fac Med, Bratislava, Slovakia Comenius Univ, Inst Physiol, Fac Med, Bratislava, SlovakiaRaskova, Barbara论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Inst Physiol, Fac Med, Bratislava, Slovakia Comenius Univ, Inst Physiol, Fac Med, Bratislava, Slovakia论文数: 引用数: h-index:机构:
- [24] WHOLE EXOME SEQUENCING AS A DIAGNOSTIC TOOL FOR COMPLEX NEUROLOGICAL DISORDERSVALUE IN HEALTH, 2014, 17 (07) : A396 - A396Frederix, G. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Utrecht, Netherlands Univ Utrecht, Utrecht, NetherlandsMonroe, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Med Ctr, Utrecht, Netherlands Univ Utrecht, Utrecht, NetherlandsHovels, A. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Utrecht, Netherlands Univ Utrecht, Utrecht, Netherlandsvan Haaften, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Med Ctr, Utrecht, Netherlands Univ Utrecht, Utrecht, Netherlands
- [25] THE UTILITY OF WHOLE EXOME SEQUENCING IN DIAGNOSING PEDIATRIC NEUROLOGICAL DISORDERSBALKAN JOURNAL OF MEDICAL GENETICS, 2020, 23 (02) : 17 - 23Muthaffar, O. Y.论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Dept Pediat, POB 80215, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, Dept Pediat, POB 80215, Jeddah 21589, Saudi Arabia
- [26] Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencingGENOMICS, 2013, 102 (5-6) : 442 - 447Dinwiddie, Darrell L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pathol, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64110 USA Univ New Mexico, Hlth Sci Ctr, Dept Pediat, Albuquerque, NM 87131 USA Univ New Mexico, Clin Translat Sci Ctr, Albuquerque, NM 87131 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USABracken, Julia M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64110 USA Childrens Mercy Hosp, Div Pediat Gastroenterol, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USABass, Julie A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64110 USA Childrens Mercy Hosp, Div Pediat Gastroenterol, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USAChristenson, Kathy论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Hosp, Div Pediat Gastroenterol, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USASoden, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64110 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USASaunders, Carol J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pathol, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64110 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USAMiller, Neil A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USASingh, Vivekanand论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Dept Pathol, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64110 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USAZwick, David L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Dept Pathol, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64110 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USARoberts, Charles C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64110 USA Childrens Mercy Hosp, Div Pediat Gastroenterol, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USADalal, Jignesh论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64110 USA Childrens Mercy Hosp, Div Hematol Oncol, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USAKingsmore, Stephen F.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pathol, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64110 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
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- [28] Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingJOURNAL OF MEDICAL GENETICS, 2012, 49 (04) : 277 - 283Haack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyHaberberger, Birgit论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyFrisch, Eva-Maria论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Ctr, Dept Neuropediat, Berlin, Germany Charite Univ Med Ctr, NeuroCure Clin Res Ctr, Berlin, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyWieland, Thomas论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyIuso, Arcangela论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyGorza, Matteo论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Res Unit Prot Sci, Neuherberg, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyStrecker, Valentina论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Sch Med, Frankfurt, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyGraf, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyMayr, Johannes A.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ Salzburg, Dept Pediat, Salzburg, Austria Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyHerberg, Ulrike论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Pediat Cardiol, Bonn, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyHennermann, Julia B.论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Ctr, Ctr Metab Disorders, Berlin, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyKlopstock, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyKuhn, Klaus A.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Med Stat & Epidemiol, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyAhting, Uwe论文数: 0 引用数: 0 h-index: 0机构: Stadt Klinikum Munchen, Dept Clin Chem, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanySperl, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ Salzburg, Dept Pediat, Salzburg, Austria Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyWilichowski, Ekkehard论文数: 0 引用数: 0 h-index: 0机构: Univ Med Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyHoffmann, Georg F.论文数: 0 引用数: 0 h-index: 0机构: Univ Heidelberg Hosp, Dept Pediat, Heidelberg, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyTesarova, Marketa论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Pediat & Adolescent Med, Fac Med 1, Prague, Czech Republic Gen Univ Hosp, Prague, Czech Republic Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyHansikova, Hana论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Pediat & Adolescent Med, Fac Med 1, Prague, Czech Republic Gen Univ Hosp, Prague, Czech Republic Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyZeman, Jiri论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Pediat & Adolescent Med, Fac Med 1, Prague, Czech Republic Gen Univ Hosp, Prague, Czech Republic Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyPlecko, Barbara论文数: 0 引用数: 0 h-index: 0机构: Kinderspital Zurich, Dept Neurol, CH-8032 Zurich, Switzerland Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyZeviani, Massimo论文数: 0 引用数: 0 h-index: 0机构: Ist Neurol Carlo Besta, Unit Mol Neurogenet Fdn, Milan, Italy Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyWittig, Ilka论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Sch Med, Frankfurt, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanySchuelke, Markus论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Ctr, Dept Neuropediat, Berlin, Germany Charite Univ Med Ctr, NeuroCure Clin Res Ctr, Berlin, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyFreisinger, Peter论文数: 0 引用数: 0 h-index: 0机构: Community Hosp Reutlingen, Dept Pediat, Reutlingen, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyMeitinger, Thomas论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Munich Heart Alliance, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, GermanyProkisch, Holger论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany
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- [30] Identification of Novel Gene Variants for Autism Spectrum Disorders in the Lebanese Population Using Whole-Exome SequencingGENES, 2022, 13 (02)论文数: 引用数: h-index:机构:Bitar, Tania论文数: 0 引用数: 0 h-index: 0机构: Holy Spirit Univ Kaslik, Fac Arts & Sci, Dept Biol, POB 446, Jounieh, Lebanon Holy Spirit Univ Kaslik, Fac Arts & Sci, Dept Biol, POB 446, Jounieh, LebanonLaumonnier, Frederic论文数: 0 引用数: 0 h-index: 0机构: Univ Tours, Fac Med, INSERM, UMR 1253,iBrain, F-37032 Tours 1, France Holy Spirit Univ Kaslik, Fac Arts & Sci, Dept Biol, POB 446, Jounieh, LebanonMarouillat, Sylviane论文数: 0 引用数: 0 h-index: 0机构: Univ Tours, Fac Med, INSERM, UMR 1253,iBrain, F-37032 Tours 1, France Holy Spirit Univ Kaslik, Fac Arts & Sci, Dept Biol, POB 446, Jounieh, Lebanon论文数: 引用数: h-index:机构:Andres, Christian R.论文数: 0 引用数: 0 h-index: 0机构: Univ Tours, Fac Med, INSERM, UMR 1253,iBrain, F-37032 Tours 1, France CHRU Tours, Lab Biochim & Biol Mol, F-37044 Tours 09, France Holy Spirit Univ Kaslik, Fac Arts & Sci, Dept Biol, POB 446, Jounieh, LebanonHleihel, Walid论文数: 0 引用数: 0 h-index: 0机构: Holy Spirit Univ Kaslik, Fac Arts & Sci, Dept Biol, POB 446, Jounieh, Lebanon Holy Spirit Univ Kaslik, Sch Med & Med Sci, POB 446, Jounieh, Lebanon Holy Spirit Univ Kaslik, Fac Arts & Sci, Dept Biol, POB 446, Jounieh, Lebanon