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- [21] A novel mutation in keratocan causes autosomal recessive cornea plana and microphthalmia.INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2001, 42 (04) : S115 - S115El-Aziz, MMA论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, London, EnglandEl-Ashry, MF论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, London, EnglandLehmann, OJ论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, London, EnglandOcaka, L论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, London, EnglandJordan, T论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, London, EnglandWilkie, S论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, London, EnglandFicker, LA论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, London, EnglandKhaw, PT论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, London, England
- [22] Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in HumansAMERICAN JOURNAL OF HUMAN GENETICS, 2018, 102 (02) : 219 - 232Yang, Chi-Fan论文数: 0 引用数: 0 h-index: 0机构: Acad Sinica, Inst Biomed Sci, Taipei 115, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 115, TaiwanLin, Shuan-Pei论文数: 0 引用数: 0 h-index: 0机构: MacKay Mem Hosp, Dept Med Res, Taipei 104, Taiwan MacKay Mem Hosp, Dept Pediat, Taipei 104, Taiwan MacKay Med Coll, Dept Med, New Taipei 252, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 115, TaiwanChiang, Chien-Ping论文数: 0 引用数: 0 h-index: 0机构: Triserv Gen Hosp, Dept Dermatol, Taipei 114, Taiwan Natl Def Med Ctr, Dept Biochem, Taipei 114, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 115, TaiwanWu, Yu-Hung论文数: 0 引用数: 0 h-index: 0机构: MacKay Med Coll, Dept Med, New Taipei 252, Taiwan MacKay Mem Hosp, Dept Dermatol, Taipei 104, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 115, TaiwanH'ng, Weng Siong论文数: 0 引用数: 0 h-index: 0机构: Acad Sinica, Inst Biomed Sci, Taipei 115, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 115, TaiwanChang, Chun-Ping论文数: 0 引用数: 0 h-index: 0机构: Acad Sinica, Inst Biomed Sci, Taipei 115, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 115, TaiwanChen, Yuan-Tsong论文数: 0 引用数: 0 h-index: 0机构: Acad Sinica, Inst Biomed Sci, Taipei 115, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 115, TaiwanWu, Jer-Yuarn论文数: 0 引用数: 0 h-index: 0机构: Acad Sinica, Inst Biomed Sci, Taipei 115, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 115, Taiwan
- [23] The endocannabinoid system in neurodegeneration and psychiatryEUROPEAN NEUROPSYCHOPHARMACOLOGY, 2010, 20 : S205 - S206Van Laere, K.论文数: 0 引用数: 0 h-index: 0机构: UZ Leuven, Dept Nucl Med, Louvain, Belgium UZ Leuven, Dept Nucl Med, Louvain, Belgium
- [24] Novel FAM20A mutation causes autosomal recessive amelogenesis imperfectaARCHIVES OF ORAL BIOLOGY, 2015, 60 (06) : 919 - 922Volodarsky, Michael论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, IL-84105 Beer Sheva, IsraelZilberman, Uri论文数: 0 引用数: 0 h-index: 0机构: Barzilai Govt Hosp, Pediat Dent Unit, Ashqelon, Israel Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, IL-84105 Beer Sheva, IsraelBirk, Ohad S.论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, IL-84105 Beer Sheva, Israel Soroka Med Ctr, Genet Inst, IL-84101 Beer Sheva, Israel Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, IL-84105 Beer Sheva, Israel
- [25] A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh familyANNALS OF HUMAN GENETICS, 2020, 84 (01) : 46 - 53Qu, Ronggui论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R ChinaSang, Qing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, State Key Lab Genet Engn, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, MOE Key Lab Contemporary Anthropol, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R ChinaWang, Xueqian论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, State Key Lab Genet Engn, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, MOE Key Lab Contemporary Anthropol, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R ChinaXu, Yao论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, State Key Lab Genet Engn, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, MOE Key Lab Contemporary Anthropol, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R ChinaChen, Biaobang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, State Key Lab Genet Engn, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, MOE Key Lab Contemporary Anthropol, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R ChinaMu, Jian论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, State Key Lab Genet Engn, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, MOE Key Lab Contemporary Anthropol, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R ChinaZhang, Zhihua论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, State Key Lab Genet Engn, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, MOE Key Lab Contemporary Anthropol, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R ChinaJin, Li论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, State Key Lab Genet Engn, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, MOE Key Lab Contemporary Anthropol, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R ChinaHe, Lin论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, State Key Lab Genet Engn, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, MOE Key Lab Contemporary Anthropol, Sch Life Sci, Shanghai 200438, Peoples R China Shanghai Jiao Tong Univ, Bio X Ctr, Key Lab Genet Dev & Neuropsychiat Disorders, Minist Educ, Shanghai 200030, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R ChinaWang, Lei论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, State Key Lab Genet Engn, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, MOE Key Lab Contemporary Anthropol, Sch Life Sci, Shanghai 200438, Peoples R China Fudan Univ, Inst Biomed Sci, Mingdao Bldg Room 307,Yi Xue Yuan Rd 138, Shanghai 200032, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200011, Peoples R China
- [26] hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasiaJOURNAL OF EXPERIMENTAL MEDICINE, 2018, 215 (09): : 2339 - 2353Mackie, Duncan I.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USAAl Mutairi, Fuad论文数: 0 引用数: 0 h-index: 0机构: King Abdul Aziz Med City, Dept Pediat, Riyadh, Saudi Arabia King Saud bin Abdulaziz Univ Hlth Sci, Riyadh, Saudi Arabia KAIMRC, Riyadh, Saudi Arabia Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USADavis, Reema B.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USAKechele, Daniel O.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USANielsen, Natalie R.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USASnyder, Joshua C.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Cell Biol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Surg, Durham, NC 27710 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USACaron, Marc G.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Cell Biol, Durham, NC 27710 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USAKliman, Harvey J.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Obstet Gynecol & Reprod Sci, New Haven, CT USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 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, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USASimms, John论文数: 0 引用数: 0 h-index: 0机构: Coventry Univ, Fac Hlth & Life Sci, Sch Life Sci, Coventry, W Midlands, England Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USAPoyner, David R.论文数: 0 引用数: 0 h-index: 0机构: Aston Univ, Sch Life & Hlth Sci, Birmingham, England Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USACaron, Kathleen M.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27515 USA
- [27] GLS loss of function causes autosomal recessive spastic ataxia and optic atrophyANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2018, 5 (02): : 216 - 221Lynch, David S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, EnglandChelban, Viorica论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, EnglandVandrovcova, Jana论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, EnglandPittman, Alan论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, EnglandWood, Nicholas W.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England Natl Hosp Neurol & Neurosurg, Neurogenet Unit, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England
- [28] Genetic Causes of Putative Autosomal Recessive Intellectual Disability Cases in Hamedan ProvinceARCHIVES OF REHABILITATION, 2012, 13 (01): : 66 - 70Bastami, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Human Genet, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Human Genet, Tehran, IranPapari, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Human Genet, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Human Genet, Tehran, IranAbedini, S. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Human Genet, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Human Genet, Tehran, IranKahrizi, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Human Genet, Tehran, IranNajmabadi, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Human Genet, Tehran, Iran
- [29] Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathyHUMAN MOLECULAR GENETICS, 2016, 25 (14) : 3042 - 3054Palmer, Elizabeth E.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, Australia Genet Learning Disabil Serv, Waratah, NSW 2298, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaJarrett, Kelsey E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Integrat Mol & Biomed Sci Grad Program, Houston, TX 77030 USA Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaSachdev, Rani K.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaAl Zahrani, Fatema论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaHashem, Mais Omar论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaIbrahim, Niema论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaSampaio, Hugo论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaKandula, Tejaswi论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaMacintosh, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Randwick, NSW 2031, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaGupta, Rajat论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaConlon, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaBillheimer, Jeffrey T.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaRader, Daniel J.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaFunato, Kouichi论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biosphere Sci, Dept Biofunct Sci & Technol, 1-4-4 Kagamiyam, Higashihiroshima 7398528, Japan Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaWalkey, Christopher J.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaLee, Chang Seok论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaLoo, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, Australia SEALS Pathol, Randwick, NSW 2031, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaBrammah, Susan论文数: 0 引用数: 0 h-index: 0机构: Concord Repatriat Gen Hosp, Electron Microscope Unit, Concord, NSW 2139, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaElakis, George论文数: 0 引用数: 0 h-index: 0机构: SEALS Pathol, Randwick, NSW 2031, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaZhu, Ying论文数: 0 引用数: 0 h-index: 0机构: Genet Learning Disabil Serv, Waratah, NSW 2298, Australia SEALS Pathol, Randwick, NSW 2031, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaBuckley, Michael论文数: 0 引用数: 0 h-index: 0机构: SEALS Pathol, Randwick, NSW 2031, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaKirk, Edwin P.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia SEALS Pathol, Randwick, NSW 2031, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaBye, Ann论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, Australia Sydney Childrens Hosp, Randwick, NSW 2031, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaAlkuraya, Fowzan S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaRoscioli, Tony论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Randwick, NSW 2031, Australia Garvan Inst, Kinghorn Ctr Clin Genom, 370 Victoria St, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, Australia Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, AustraliaLagor, William R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW 2031, Australia
- [30] A missense mutation in LIM2 causes autosomal recessive congenital cataractMOLECULAR VISION, 2008, 14 (141): : 1204 - 1208Ponnam, Surya Prakash G.论文数: 0 引用数: 0 h-index: 0机构: Hyderabad Eye Res Fdn, Champalimaud Translat Ctr, Kallam Anji Reddy Mol Genet Lab, LV Prasad Eye Inst,Brien Holden Eye Res Ctr,HERF, Hyderabad 500034, Andhra Pradesh, IndiaRamesha, Kekunnaya论文数: 0 引用数: 0 h-index: 0机构: LV Prasad Eye Inst, Jasti V Ramanamma Childrens Eye Care Ctr, Hyderabad, Andhra Pradesh, India Hyderabad Eye Res Fdn, Champalimaud Translat Ctr, Kallam Anji Reddy Mol Genet Lab, LV Prasad Eye Inst,Brien Holden Eye Res Ctr,HERF, Hyderabad 500034, Andhra Pradesh, IndiaTejwani, Sushma论文数: 0 引用数: 0 h-index: 0机构: LV Prasad Eye Inst, Jasti V Ramanamma Childrens Eye Care Ctr, Hyderabad, Andhra Pradesh, India Hyderabad Eye Res Fdn, Champalimaud Translat Ctr, Kallam Anji Reddy Mol Genet Lab, LV Prasad Eye Inst,Brien Holden Eye Res Ctr,HERF, Hyderabad 500034, Andhra Pradesh, IndiaMatalia, Jyoti论文数: 0 引用数: 0 h-index: 0机构: LV Prasad Eye Inst, Jasti V Ramanamma Childrens Eye Care Ctr, Hyderabad, Andhra Pradesh, India Hyderabad Eye Res Fdn, Champalimaud Translat Ctr, Kallam Anji Reddy Mol Genet Lab, LV Prasad Eye Inst,Brien Holden Eye Res Ctr,HERF, Hyderabad 500034, Andhra Pradesh, IndiaKannabiran, Chitra论文数: 0 引用数: 0 h-index: 0机构: Hyderabad Eye Res Fdn, Champalimaud Translat Ctr, Kallam Anji Reddy Mol Genet Lab, LV Prasad Eye Inst,Brien Holden Eye Res Ctr,HERF, Hyderabad 500034, Andhra Pradesh, India Hyderabad Eye Res Fdn, Champalimaud Translat Ctr, Kallam Anji Reddy Mol Genet Lab, LV Prasad Eye Inst,Brien Holden Eye Res Ctr,HERF, Hyderabad 500034, Andhra Pradesh, India