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- [21] Molecular diagnosis and disease gene identification in neurological disorders using exome sequencingEUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 94 - 94Haack, T. B.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyFreisinger, P.论文数: 0 引用数: 0 h-index: 0机构: Community Hosp Reutlingen, Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyMayr, H.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Salzburg, Austria Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanySperl, W.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Salzburg, Austria Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyKornblum, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Bonn, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyKlopstock, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyStrom, T. M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyMeitinger, T.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyProkisch, H.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany
- [22] Molecular diagnosis and disease gene identification in neurological disorders using exome sequencingJOURNAL OF NEUROLOGY, 2014, 261 : S68 - S68Haack, T. B.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyFreisinger, P.论文数: 0 引用数: 0 h-index: 0机构: Community Hosp Reutlingen, Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyMayr, H.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Salzburg, Austria Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanySperl, W.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Salzburg, Austria Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyKornblum, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Bonn, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyKlopstock, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyStrom, T. M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyMeitinger, T.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, GermanyProkisch, H.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany
- [23] 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
- [24] Molecular Diagnosis of TYR Negative Albinism Patients by Clinical Exome SequencingEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 118 - 118Akyoney, Sezer论文数: 0 引用数: 0 h-index: 0机构: Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Biol, Istanbul, Turkey Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Biol, Istanbul, TurkeySahin, Ilayda论文数: 0 引用数: 0 h-index: 0机构: Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Genet, Istanbul, Turkey Acibadem Mehmet Ali Aydinlar Univ, Dept Med Biotechnol, Istanbul, Turkey Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Biol, Istanbul, TurkeyUnal, Busra论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Umraniye Training & Res Hosp UEA, Dept Med Genet, Istanbul, Turkey Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Biol, Istanbul, TurkeyAgaoglu, Nihat Bugra论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Umraniye Training & Res Hosp UEA, Dept Med Genet, Istanbul, Turkey Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Biol, Istanbul, TurkeyMudun, Abdulbaki论文数: 0 引用数: 0 h-index: 0机构: Acibadem Maslak Hosp, Dept Ophthalmol, Istanbul, Turkey Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Biol, Istanbul, TurkeyParlakgunes, Zeynep论文数: 0 引用数: 0 h-index: 0机构: Yeditepe Univ, Dept Ophthalmol, Eye Ctr, Istanbul, Turkey Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Biol, Istanbul, Turkey论文数: 引用数: h-index:机构:Alanay, Yasemin论文数: 0 引用数: 0 h-index: 0机构: Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Genet, Istanbul, Turkey Acibadem Univ Rare Dis & Orphan Drugs Applicat &, Istanbul, Turkey Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Biol, Istanbul, TurkeyOzbek, Ugur论文数: 0 引用数: 0 h-index: 0机构: Acibadem Univ Rare Dis & Orphan Drugs Applicat &, Istanbul, Turkey Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Biol, Istanbul, TurkeyNg, Ozden Hatirnaz论文数: 0 引用数: 0 h-index: 0机构: Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Biol, Istanbul, Turkey Acibadem Univ Rare Dis & Orphan Drugs Applicat &, Istanbul, Turkey Acibadem Mehmet Ali Aydinlar Univ, Sch Med, Dept Med Biol, Istanbul, Turkey
- [25] Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in IsraelGENES, 2022, 13 (01)Tal-Ben Ishay, Rotem论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Fac Hlth Sci, Dept Publ Hlth, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Azrieli Natl Ctr Autism & Neurodev Res, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Publ Hlth, IL-84100 Beer Sheva, IsraelShil, Apurba论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Fac Hlth Sci, Dept Publ Hlth, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Azrieli Natl Ctr Autism & Neurodev Res, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Zlotowski Ctr Neurosci, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Publ Hlth, IL-84100 Beer Sheva, IsraelSolomon, Shirley论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Azrieli Natl Ctr Autism & Neurodev Res, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Publ Hlth, IL-84100 Beer Sheva, IsraelSadigurschi, Noa论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Azrieli Natl Ctr Autism & Neurodev Res, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Zlotowski Ctr Neurosci, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Physiol & Cell Biol, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Publ Hlth, IL-84100 Beer Sheva, IsraelAbu-Kaf, Hadeel论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Azrieli Natl Ctr Autism & Neurodev Res, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Physiol & Cell Biol, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Publ Hlth, IL-84100 Beer Sheva, Israel论文数: 引用数: h-index:机构:Flusser, Hagit论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Azrieli Natl Ctr Autism & Neurodev Res, IL-84100 Beer Sheva, Israel Soroka Univ, Med Ctr, Child Dev Ctr, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Publ Hlth, IL-84100 Beer Sheva, IsraelMichaelovski, Analya论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Azrieli Natl Ctr Autism & Neurodev Res, IL-84100 Beer Sheva, Israel Soroka Univ, Med Ctr, Child Dev Ctr, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Publ Hlth, IL-84100 Beer Sheva, IsraelDinstein, Ilan论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Azrieli Natl Ctr Autism & Neurodev Res, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Zlotowski Ctr Neurosci, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Psychol Dept, IL-84100 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Publ Hlth, IL-84100 Beer Sheva, Israel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:
- [26] Diagnostic yield and clinical utility of clinical exome sequencingEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 498 - 499Narravula, A.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany CENTOGENE AG, Rostock, GermanyKienle, N.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany CENTOGENE AG, Rostock, GermanyHoevel, I.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany CENTOGENE AG, Rostock, GermanyRomito, A.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany CENTOGENE AG, Rostock, GermanyBertoli-Avella, A.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany CENTOGENE AG, Rostock, GermanyYuksel, Z.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany CENTOGENE AG, Rostock, GermanyPaknia, O.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany CENTOGENE AG, Rostock, GermanyNampoothiri, S.论文数: 0 引用数: 0 h-index: 0机构: Amrita Inst Med Sci & Res Ctr, Dept Pediat Genet, Cochin, Kerala, India CENTOGENE AG, Rostock, GermanyHadipour, Z.论文数: 0 引用数: 0 h-index: 0机构: Sarem Cell Res Ctr & Hosp, Med Genet Dept, Tehran, Iran CENTOGENE AG, Rostock, GermanyHadipour, F.论文数: 0 引用数: 0 h-index: 0机构: Sarem Cell Res Ctr & Hosp, Med Genet Dept, Tehran, Iran CENTOGENE AG, Rostock, GermanyOprea, G.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany CENTOGENE AG, Rostock, GermanyKishore, S.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany CENTOGENE AG, Rostock, GermanyBauer, P.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany CENTOGENE AG, Rostock, GermanyRolfs, A.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Albrecht Kossel Inst, Rostock, Germany CENTOGENE AG, Rostock, Germany
- [27] Diagnostic utility of exome sequencing in the evaluation of neuromuscular disordersNEUROLOGY-GENETICS, 2018, 4 (01)Haskell, Gloria T.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pathol, Durham, NC 27706 USA Duke Univ, Dept Pathol, Durham, NC 27706 USAAdams, Michael C.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Wexner Med Ctr, Columbus, OH 43210 USA Duke Univ, Dept Pathol, Durham, NC 27706 USAFan, Zheng论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Neurol, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USAAmin, Krunal论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USABadillo, Roberto J. Guzman论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USAZhou, Linran论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USABizon, Christopher论文数: 0 引用数: 0 h-index: 0机构: Renaissance Comp Inst, Chapel Hill, NC USA Duke Univ, Dept Pathol, Durham, NC 27706 USAChahin, Nizar论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Portland, OR 97201 USA Duke Univ, Dept Pathol, Durham, NC 27706 USAGreenwood, Robert S.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Neurol, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USAMilko, Laura V.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USAShiloh-Malawsky, Yael论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Neurol, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USACrooks, Kristy R.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pathol, Denver, CO USA Duke Univ, Dept Pathol, Durham, NC 27706 USAStrande, Natasha论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Pathol & Lab Med, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USATennison, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Neurol, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USATilley, Christian R.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USABrandt, Alicia论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USAWilhelmsen, Kirk C.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Neurol, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Renaissance Comp Inst, Chapel Hill, NC USA Duke Univ, Dept Pathol, Durham, NC 27706 USAWeck, Karen论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Pathol & Lab Med, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USAEvans, James P.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USABerg, Jonathan S.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27515 USA Duke Univ, Dept Pathol, Durham, NC 27706 USA
- [28] Diagnostic Utility of Exome Sequencing for Disorders of the Immune SystemJOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 354 - 354Begtrup, Amber论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Clin Genom Program, Gaithersburg, MD USA GeneDx, Clin Genom Program, Gaithersburg, MD USAChikarmane, Rashmi论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA GeneDx, Clin Genom Program, Gaithersburg, MD USABlevins, Amy论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA GeneDx, Clin Genom Program, Gaithersburg, MD USAScuffins, Julie论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Genom, Gaithersburg, MD USA GeneDx, Clin Genom Program, Gaithersburg, MD USAJuusola, Jane论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Clin Genom Program, Gaithersburg, MD USA GeneDx, Clin Genom Program, Gaithersburg, MD USA
- [29] Whole exome sequencing as a diagnostic tool in neuromuscular disordersNEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 800 - 801Penttila, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Tampere, FIN-33101 Tampere, Finland Univ Tampere, FIN-33101 Tampere, FinlandUdd, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Tampere, FIN-33101 Tampere, Finland Tampere Univ Hosp, Tampere, Finland Univ Tampere, FIN-33101 Tampere, Finland
- [30] Diagnostic Exome Sequencing in Adolescents with Neurological and Neurodevelopmental DisordersNEUROLOGY, 2018, 90Blanco, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Ambry Genet, Aliso Viejo, CA USAPowis, Zoe论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Ambry Genet, Aliso Viejo, CA USAHagman, Kelly D. F.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Ambry Genet, Aliso Viejo, CA USAWeltmer, Elaine C.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Ambry Genet, Aliso Viejo, CA USATang, Sha论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Ambry Genet, Aliso Viejo, CA USA