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- [21] Exome sequencing identifies novel and known mutations in families with intellectual disabilityBMC MEDICAL GENOMICS, 2021, 14 (01)Rasheed, Memoona论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, PakistanKhan, Valeed论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, PakistanHarripaul, Ricardo论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Mol Neuropsychiat & Dev MiND Lab, Toronto, ON M5T 1R8, Canada Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A8, Canada Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, PakistanSiddiqui, Maimoona论文数: 0 引用数: 0 h-index: 0机构: Shifa Coll Med, Div Neurol, H-8-1, Islamabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, PakistanMalik, Madiha Amin论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, PakistanUllah, Zahid论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, PakistanZahid, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, PakistanVincent, John B.论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Mol Neuropsychiat & Dev MiND Lab, Toronto, ON M5T 1R8, Canada Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A8, Canada Univ Toronto, Dept Psychiat, Toronto, ON M5T 1R8, Canada Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 45320, Pakistan论文数: 引用数: h-index:机构:
- [22] NOVEL MUTATIONS IN FAMILIAL DILATED CARDIOMYOPATHY IDENTIFIED BY WHOLE EXOME SEQUENCINGCANADIAN JOURNAL OF CARDIOLOGY, 2013, 29 (10) : S364 - S364Tadros, R.论文数: 0 引用数: 0 h-index: 0Chami, N.论文数: 0 引用数: 0 h-index: 0Beaudoin, M.论文数: 0 引用数: 0 h-index: 0Lo, K.论文数: 0 引用数: 0 h-index: 0Robb, L.论文数: 0 引用数: 0 h-index: 0Lemarbre, F.论文数: 0 引用数: 0 h-index: 0Talajic, M.论文数: 0 引用数: 0 h-index: 0Lettre, G.论文数: 0 引用数: 0 h-index: 0
- [23] Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisisMOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (05):Salinas-Torres, Victor M.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Univ Hosp Dr Jose Eleuterio Gonzalez, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, MexicoGallardo-Blanco, Hugo L.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Univ Hosp Dr Jose Eleuterio Gonzalez, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, MexicoSalinas-Torres, Rafael A.论文数: 0 引用数: 0 h-index: 0机构: Inst Tecnol Tijuana, Dept Syst & Comp, Tijuana, Mexico Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, MexicoCerda-Flores, Ricardo M.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Nuevo Leon, Sch Nursing, Monterrey, Mexico Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, MexicoLugo-Trampe, Jose J.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Univ Hosp Dr Jose Eleuterio Gonzalez, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, MexicoVillarreal-Martinez, Daniel Z.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Univ Hosp Dr Jose Eleuterio Gonzalez, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, MexicoIbarra-Ramirez, Marisol论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Univ Hosp Dr Jose Eleuterio Gonzalez, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, MexicoMartinez de Villarreal, Laura E.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Univ Hosp Dr Jose Eleuterio Gonzalez, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico Univ Autonoma Nuevo Leon, Sch Med, Dept Genet, Ave Madero & Gonzalitos S-N, Monterrey 64460, Nuevo Leon, Mexico
- [24] Combined linkage analysis and exome sequencing identifies novel genes for familial goiterJournal of Human Genetics, 2013, 58 : 366 - 377Junxia Yan论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental SciencesTsutomu Takahashi论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental SciencesToshihiro Ohura论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental SciencesHiroyuki Adachi论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental SciencesIkuko Takahashi论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental SciencesEishin Ogawa论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental SciencesHiroko Okuda论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental SciencesHatasu Kobayashi论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental SciencesToshiaki Hitomi论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental SciencesWanyang Liu论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental SciencesKouji H Harada论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental SciencesAkio Koizumi论文数: 0 引用数: 0 h-index: 0机构: Graduate School of Medicine,Department of Health and Environmental Sciences
- [25] Combined linkage analysis and exome sequencing identifies novel genes for familial goiterJOURNAL OF HUMAN GENETICS, 2013, 58 (06) : 366 - 377Yan, Junxia论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, JapanTakahashi, Tsutomu论文数: 0 引用数: 0 h-index: 0机构: Akita Univ, Grad Sch Med, Dept Pediat, Akita 010, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, JapanOhura, Toshihiro论文数: 0 引用数: 0 h-index: 0机构: Sendai City Hosp, Dept Pediat, Sendai, Miyagi, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, JapanAdachi, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Akita Univ, Grad Sch Med, Dept Pediat, Akita 010, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, JapanTakahashi, Ikuko论文数: 0 引用数: 0 h-index: 0机构: Akita Univ, Grad Sch Med, Dept Pediat, Akita 010, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, JapanOgawa, Eishin论文数: 0 引用数: 0 h-index: 0机构: Teikyo Univ, Sch Med, Dept Pediat, Tokyo, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, JapanOkuda, Hiroko论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, JapanKobayashi, Hatasu论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, JapanHitomi, Toshiaki论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, JapanLiu, Wanyang论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, JapanHarada, Kouji H.论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, JapanKoizumi, Akio论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Kyoto 6068501, Japan
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- [28] Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsiaJournal of Translational Medicine, 13Fen-Fen Li论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceXiu-Feng Huang论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceJie Chen论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceXu-Dong Yu论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceMei-Qin Zheng论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceFan Lu论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceZi-Bing Jin论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceDe-Kang Gan论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science
- [29] Targeted Deep Sequencing in Blast Phase Myeloproliferative NeoplasmsBLOOD, 2017, 130Tefferi, Ayalew论文数: 0 引用数: 0 h-index: 0Lasho, Terra L.论文数: 0 引用数: 0 h-index: 0Mudireddy, Mythri论文数: 0 引用数: 0 h-index: 0Finke, Christy论文数: 0 引用数: 0 h-index: 0Begna, Kebede H.论文数: 0 引用数: 0 h-index: 0Hanson, Curtis A.论文数: 0 引用数: 0 h-index: 0Ketterling, Rhett P.论文数: 0 引用数: 0 h-index: 0Gangat, Naseema论文数: 0 引用数: 0 h-index: 0Pardanani, Animesh论文数: 0 引用数: 0 h-index: 0
- [30] Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotypeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (04) : 1009 - 1016Altassan, Ruqaiah论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaAl Saud, Haya论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Ctr Hosp, Dept Genet, POB 3354, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaMasoodi, Tariq Ahmad论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Ctr Hosp, Dept Genet, POB 3354, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaAl Dosssari, Haya论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Ctr Hosp, Dept Genet, POB 3354, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi Arabia论文数: 引用数: h-index:机构:Al-Zaidan, Hamad论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi Arabia Faisal Univ, Coll Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaSakati, Nadia论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaRhabeeni, Zuhair论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaAl-Hassnan, Zuhair论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi Arabia Faisal Univ, Coll Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaBinamer, Yousef论文数: 0 引用数: 0 h-index: 0机构: Faisal Univ, Coll Med, Riyadh, Saudi Arabia King Faisal Specialist, Dept Dermatol, King, WI USA King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaAlhashemi, Nadia论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp, Dept Pediat, Muscat, Oman King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaWade, William论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp, Dept Pediat, Muscat, Oman King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaAl-Zayed, Zayed论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp, Dept Pediat, Muscat, Oman King Faisal Specialist Hosp & Res Ctr, Dept Orthoped, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaAl-Sayed, Moeen论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaAl-Muhaizea, Mohamed A.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Neurol, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaMeyer, Brian论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Ctr Hosp, Dept Genet, POB 3354, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaAl-Owain, Mohammad论文数: 0 引用数: 0 h-index: 0机构: Faisal Univ, Coll Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi ArabiaWakil, Salma M.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Genet, POB 3354, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Ctr Hosp, Dept Med Genet, Riyadh, Saudi Arabia