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- [21] Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patientEUROPEAN JOURNAL OF MEDICAL GENETICS, 2017, 60 (08) : 411 - 415Won, Joon Yeon论文数: 0 引用数: 0 h-index: 0机构: Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South Korea Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South Korea论文数: 引用数: h-index:机构:Lee, Hye-Ran论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Div Pediat Orthopaed, Childrens Hosp, 28 Daehak Ro, Seoul 03080, South Korea Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South KoreaPark, Seon Young论文数: 0 引用数: 0 h-index: 0机构: Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South Korea Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South Korea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:Cho, Tae-Joon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Div Pediat Orthopaed, Childrens Hosp, 28 Daehak Ro, Seoul 03080, South Korea Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South Korea
- [22] Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis SyndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (01) : 123 - 129Halim, Danny论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsBrosens, Erwin论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsMuller, Francoise论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Robert Debre, Biochim Prenatale, F-75019 Paris, France Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsWangler, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsBeaudet, Arthur L.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Texas Childens Hosp, Houston, TX 77030 USA Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsLupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Texas Childens Hosp, Houston, TX 77030 USA Baylor Coll Med, Baylor Hopkins Ctr Mendelian Genom, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsAkdemir, Zeynep H. Coban论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Baylor Hopkins Ctr Mendelian Genom, Houston, TX 77030 USA Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsDoukas, Michael论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Pathol, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsStoop, Hans J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Pathol, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlandsde Graaf, Bianca M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsBrouwer, Rutger W. W.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Erasmus Ctr Biom, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlandsvan Ijcken, Wilfred F. J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Erasmus Ctr Biom, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsOury, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Robert Debre, Dept Obstet & Gynecol, F-75019 Paris, France Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsRosenblatt, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Robert Debre, Dept Obstet & Gynecol, F-75019 Paris, France Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsBurns, Alan J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands UCL, UCL Great Ormond St Inst Child Hlth, Birth Defects Res Ctr, Stem Cells & Regenerat Med, London WC1N 1EH, England Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsTibboel, Dick论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Pediat Surg, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsHofstra, Robert M. W.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands UCL, UCL Great Ormond St Inst Child Hlth, Birth Defects Res Ctr, Stem Cells & Regenerat Med, London WC1N 1EH, England Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsAlves, Maria M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands
- [23] A Loss of Function Mutation in the COL9A2 Gene Cause Autosomal Recessive Stickler SyndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (07) : 1668 - 1672Baker, Stuart论文数: 0 引用数: 0 h-index: 0机构: Connect Tissue Gene Tests, Allentown, PA 18106 USA Connect Tissue Gene Tests, Allentown, PA 18106 USABooth, Carol论文数: 0 引用数: 0 h-index: 0机构: Advocate Lutheran Gen Childrens Hosp, Dept Pediat, Park Ridge, IL USA Connect Tissue Gene Tests, Allentown, PA 18106 USAFillman, Corrine论文数: 0 引用数: 0 h-index: 0机构: Connect Tissue Gene Tests, Allentown, PA 18106 USA Connect Tissue Gene Tests, Allentown, PA 18106 USAShapiro, Michael论文数: 0 引用数: 0 h-index: 0机构: Retina Consultants Ltd, Des Plaines, IL USA Connect Tissue Gene Tests, Allentown, PA 18106 USABlair, Michael P.论文数: 0 引用数: 0 h-index: 0机构: Retina Consultants Ltd, Des Plaines, IL USA Connect Tissue Gene Tests, Allentown, PA 18106 USAHyland, James C.论文数: 0 引用数: 0 h-index: 0机构: Connect Tissue Gene Tests, Allentown, PA 18106 USA Connect Tissue Gene Tests, Allentown, PA 18106 USAAla-Kokko, Leena论文数: 0 引用数: 0 h-index: 0机构: Connect Tissue Gene Tests, Allentown, PA 18106 USA Connect Tissue Gene Tests, Allentown, PA 18106 USA
- [24] Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations (vol 14, pg 533, 2010)GENETIC TESTING AND MOLECULAR BIOMARKERS, 2010, 14 (05) : 730 - 730Flanagan, Sarah E.论文数: 0 引用数: 0 h-index: 0
- [25] Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy (vol 86, pg 248, 2010)AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 98 (03) : 592 - 592Poulter, James A.论文数: 0 引用数: 0 h-index: 0Ali, Manir论文数: 0 引用数: 0 h-index: 0Gilmour, David F.论文数: 0 引用数: 0 h-index: 0Rice, Aine论文数: 0 引用数: 0 h-index: 0Kondo, Hiroyuki论文数: 0 引用数: 0 h-index: 0Hayashi, Kenshi论文数: 0 引用数: 0 h-index: 0Mackey, David A.论文数: 0 引用数: 0 h-index: 0Kearns, Lisa S.论文数: 0 引用数: 0 h-index: 0Ruddle, Jonathan B.论文数: 0 引用数: 0 h-index: 0Craig, Jamie E.论文数: 0 引用数: 0 h-index: 0Pierce, Eric A.论文数: 0 引用数: 0 h-index: 0Downey, Louise M.论文数: 0 引用数: 0 h-index: 0Mohamed, Moin D.论文数: 0 引用数: 0 h-index: 0Markham, Alexander F.论文数: 0 引用数: 0 h-index: 0Inglehearn, Chris R.论文数: 0 引用数: 0 h-index: 0Toomes, Carmel论文数: 0 引用数: 0 h-index: 0
- [26] Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch SyndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (06) : 968 - 975Wambach, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAWegner, Daniel J.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAPatni, Nivedita论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Pediat, Dallas, TX 75390 USA UT Southwestern Med Ctr, Ctr Human Nutr, Dallas, TX 75390 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAKircher, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAWilling, Marcia C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USABaldridge, Dustin论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAXing, Chao论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, McDermott Ctr Human Growth & Dev, Dept Bioinformat, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Clin Sci, Dallas, TX 75390 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAAgarwal, Anil K.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Ctr Human Nutr, Dept Internal Med, Div Nutr Metab Dis, Dallas, TX 75390 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAVergano, Samantha A. Schrier论文数: 0 引用数: 0 h-index: 0机构: Eastern Virginia Med Sch, Dept Pediat, Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA 23507 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAPatel, Chirag论文数: 0 引用数: 0 h-index: 0机构: Royal Brisbane & Womens Hosp, Genet Hlth Queensland, Brisbane, Qld 4029, Australia Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAGrange, Dorothy K.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAKenney, Amy论文数: 0 引用数: 0 h-index: 0机构: Eastern Virginia Med Sch, Dept Pediat, Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA 23507 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USANajaf, Tasnim论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Fetal Care Ctr, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USANickerson, Deborah A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USABamshad, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USACole, F. Sessions论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAGarg, Abhimanyu论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Ctr Human Nutr, Dept Internal Med, Div Nutr Metab Dis, Dallas, TX 75390 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA
- [27] Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with DeafnessAMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (05) : 707 - 724论文数: 引用数: h-index:机构:Bodereau, Virginie论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, Lab Biochim & Genet, F-94000 Creteil, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceBaral, Viviane论文数: 0 引用数: 0 h-index: 0机构: INSERM, U955, Equipe 11, F-94000 Creteil, France Univ Paris Est Creteil Val de Marne, UMR S955, F-94000 Creteil, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceMarcos, Severine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, U1016, Inst Cochin,Dept Genet & Dev, F-75014 Paris, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceWatanabe, Yuli论文数: 0 引用数: 0 h-index: 0机构: INSERM, U955, Equipe 11, F-94000 Creteil, France Univ Paris Est Creteil Val de Marne, UMR S955, F-94000 Creteil, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceChaoui, Asma论文数: 0 引用数: 0 h-index: 0机构: INSERM, U955, Equipe 11, F-94000 Creteil, France Univ Paris Est Creteil Val de Marne, UMR S955, F-94000 Creteil, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceFouveaut, Corinne论文数: 0 引用数: 0 h-index: 0机构: Hop Cochin, AP HP, Lab Biochim & Genet Mol, F-75014 Paris, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceLeroy, Chrystel论文数: 0 引用数: 0 h-index: 0机构: Hop Cochin, AP HP, Lab Biochim & Genet Mol, F-75014 Paris, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceVerier-Mine, Odile论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Valenciennes, Serv Endocrinol, F-59322 Valenciennes, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceFrancannet, Christine论文数: 0 引用数: 0 h-index: 0机构: Hop Hotel Dieu, Serv Genet Med, F-63058 Clermont Ferrand, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceDupin-Deguine, Delphine论文数: 0 引用数: 0 h-index: 0机构: Hop Purpan, Serv Genet Med, F-31059 Toulouse, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceArchambeaud, Francoise论文数: 0 引用数: 0 h-index: 0机构: Hop Cluzeau, Serv Med & Endocrinol, F-87042 Limoges, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceKurtz, Francois-Joseph论文数: 0 引用数: 0 h-index: 0机构: Hop Belair, Serv Pediat, F-57126 Thionville, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceYoung, Jacques论文数: 0 引用数: 0 h-index: 0机构: Hop Bicetre, Serv Endocrinol, F-94275 Le Kremlin Bicetre, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceBertherat, Jerome论文数: 0 引用数: 0 h-index: 0机构: Hop Cochin, Serv Endocrinol, F-75014 Paris, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceMarlin, Sandrine论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, INSERM, Serv Genet,Ctr Reference Surdites Genet,U587, F-75012 Paris, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceGoossens, Michel论文数: 0 引用数: 0 h-index: 0机构: INSERM, U955, Equipe 11, F-94000 Creteil, France Univ Paris Est Creteil Val de Marne, UMR S955, F-94000 Creteil, France Hop Henri Mondor, Lab Biochim & Genet, F-94000 Creteil, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceHardelin, Jean-Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, U587, Dept Neurosci,Inst Pasteur, F-75015 Paris, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceDode, Catherine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, U1016, Inst Cochin,Dept Genet & Dev, F-75014 Paris, France Hop Cochin, AP HP, Lab Biochim & Genet Mol, F-75014 Paris, France INSERM, U955, Equipe 11, F-94000 Creteil, FranceBondurand, Nadege论文数: 0 引用数: 0 h-index: 0机构: INSERM, U955, Equipe 11, F-94000 Creteil, France Univ Paris Est Creteil Val de Marne, UMR S955, F-94000 Creteil, France INSERM, U955, Equipe 11, F-94000 Creteil, France
- [28] Loss-of-Function Mutations in RAB18 Cause Warburg Micro SyndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (04) : 499 - 507Bem, Danai论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandYoshimura, Shin-Ichiro论文数: 0 引用数: 0 h-index: 0机构: Univ Liverpool, Canc Res Ctr, Liverpool L3 9TA, Merseyside, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandNunes-Bastos, Ricardo论文数: 0 引用数: 0 h-index: 0机构: Univ Liverpool, Canc Res Ctr, Liverpool L3 9TA, Merseyside, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandBond, Frances F.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham B15 2TG, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandKurian, Manju A.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandRahman, Fatima论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandHandley, Mark T. W.论文数: 0 引用数: 0 h-index: 0机构: MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England论文数: 引用数: h-index:机构:Masood, Imran论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London WC1E 6BT, England Queen Elizabeth Hosp Natl Hlth Serv Fdn Trust, Dept Cellular Pathol, Birmingham B15 2WB, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandStraatman-Iwanowska, Ania A.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandCullinane, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandMcNeill, Alisdair论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham B15 2TG, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandPasha, Shanaz S.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandKirby, Gail A.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandFoster, Katharine论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Dept Radiol, Birmingham B4 6NH, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandAhmed, Zubair论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Mol Neurosci Grp, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandMorton, Jenny E.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham B15 2TG, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandWilliams, Denise论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham B15 2TG, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandGraham, John M.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandDobyns, William B.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet Neurol & Pediat, Chicago, IL 60637 USA Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandBurglen, Lydie论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants Armand Trousseau, Serv Genet Med, F-75571 Paris, France Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandAinsworth, John R.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA Birmingham Childrens Hosp, Dept Paediat Ophthalmol, Birmingham B4 6NH, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandGissen, Paul论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandMueller, Ferenc论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 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