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- [1] Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature reviewTRANSLATIONAL PEDIATRICS, 2022, 11 (06) : 1050 - 1057Gao, Jinzhi论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, 1095 Jiefang Ave, Wuhan 430030, Peoples R China Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, 1095 Jiefang Ave, Wuhan 430030, Peoples R ChinaHu, Xiaolin论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, 1095 Jiefang Ave, Wuhan 430030, Peoples R China Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, 1095 Jiefang Ave, Wuhan 430030, Peoples R ChinaHu, Wei论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, 1095 Jiefang Ave, Wuhan 430030, Peoples R China Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, 1095 Jiefang Ave, Wuhan 430030, Peoples R ChinaSun, Xuan论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, 1095 Jiefang Ave, Wuhan 430030, Peoples R China Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, 1095 Jiefang Ave, Wuhan 430030, Peoples R ChinaChen, Ling论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, 1095 Jiefang Ave, Wuhan 430030, Peoples R China Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, 1095 Jiefang Ave, Wuhan 430030, Peoples R China
- [2] Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)GASTROENTEROLOGY, 2010, 138 (07) : 2388 - U249Hartley, Jane Louise论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England Birminghams Children Hosp, Liver Unit, Birmingham, W Midlands, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandZachos, Nicholas C.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Hopkins Ctr Epithelial Disorders, Div Gastroenterol & Hepatol,Dept Med, Baltimore, MD USA Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandDawood, Ban论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Ctr Cardiovasc Sci, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandDonowitz, Mark论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Hopkins Ctr Epithelial Disorders, Div Gastroenterol & Hepatol,Dept Med, Baltimore, MD USA Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandForman, Julia论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Unite Bioinformat Strucurale, Paris, France Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandPollitt, Rodney J.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens Hosp, Dept Clin Chem, Sheffield S10 2TH, S Yorkshire, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandMorgan, Neil V.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandTee, Louise论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandGissen, Paul论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England Birminghams Children Hosp, Inherited Metab Dis Unit, Birmingham, W Midlands, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandKahr, Walter H. A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Haematol Oncol, Dept Paediat, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Res Inst, Cell Biol Program, Toronto, ON M5G 1X8, Canada Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandKnisely, Alex S.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp, Inst Liver Studies Histopathol, London, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandWatson, Steve论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Ctr Cardiovasc Sci, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandChitayat, David论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada Mt Sinai Hosp, Dept Obstet & Gynecol, New York, NY 10029 USA Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandBooth, Ian W.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandProtheroe, Sue论文数: 0 引用数: 0 h-index: 0机构: Birminghams Children Hosp, Dept Gastroenterol & Nutr, Birmingham, W Midlands, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandMurphy, Stephen论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandDe Vries, Esther论文数: 0 引用数: 0 h-index: 0机构: Jeroen Bosch Hosp, Dept Paediat, Shertogenbosch, Netherlands Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandKelly, Deirdre A.论文数: 0 引用数: 0 h-index: 0机构: Birminghams Children Hosp, Liver Unit, Birmingham, W Midlands, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, EnglandMaher, Eamonn R.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sch Med, Dept Med & Mol Genet, Coll Med & Dent Sci,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England
- [3] Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhoea of infancy)JOURNAL OF MEDICAL GENETICS, 2010, 47 : S25 - S25Hartley, Jane L.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandZachos, N. C.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Med, Div Gastroenterol & Hepatol,Hopkins Ctr Epithelia, Baltimore, MD 21205 USA Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandDawood, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Coll Med & Dent Sci, Ctr Cardiovasc Sci, Birmingham B15 2TT, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandDonowitz, M.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Med, Div Gastroenterol & Hepatol,Hopkins Ctr Epithelia, Baltimore, MD 21205 USA Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandForman, J.论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Unite Doinformat Strucurale, Paris, France Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandPollitt, R. J.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens Hosp, Dept Clin Chem, Sheffield S10 2TH, S Yorkshire, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandMorgan, N. V.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandTee, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandGissen, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandKahr, W. H. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dept Paediat, Res Inst, Hosp Sick Children, Toronto, ON M5S 1A1, Canada Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandKnisely, A. S.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp, Inst Liver Studies Histopathol, London, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandWatson, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Coll Med & Dent Sci, Ctr Cardiovasc Sci, Birmingham B15 2TT, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandChitayat, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Med, Birmingham B15 2TT, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandBooth, I. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Med, Birmingham B15 2TT, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandProtheroe, S.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Dept Gastroenterol & Nutr, Birmingham, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandMurphy, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Med, Birmingham B15 2TT, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, Englandde Vries, E.论文数: 0 引用数: 0 h-index: 0机构: Jeroen Bosch Hosp, Dept Paediat, sHertogenbosch, Netherlands Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandKelly, D. A.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, EnglandMaher, E. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, England
- [4] Novel TTC37 mutations in a patient with immunodeficiency without diarrhea: extending the phenotype of trichohepatoenteric syndromeFRONTIERS IN PEDIATRICS, 2015, 3Rider, Nicholas L.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Dept Immunol Allergy & Rheumatol, 6621 Fannin St, Houston, TX 77030 USA Texas Childrens Hosp, Baylor Coll Med, Dept Immunol Allergy & Rheumatol, 6621 Fannin St, Houston, TX 77030 USABoisson, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA Texas Childrens Hosp, Baylor Coll Med, Dept Immunol Allergy & Rheumatol, 6621 Fannin St, Houston, TX 77030 USAJyonouchi, Soma论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Allergy Immunol, Philadelphia, PA 19104 USA Texas Childrens Hosp, Baylor Coll Med, Dept Immunol Allergy & Rheumatol, 6621 Fannin St, Houston, TX 77030 USAHanson, Eric P.论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Immunodeficiency & Inflammat Unit, NIH, Bethesda, MD 20892 USA Texas Childrens Hosp, Baylor Coll Med, Dept Immunol Allergy & Rheumatol, 6621 Fannin St, Houston, TX 77030 USARosenzweig, Sergio D.论文数: 0 引用数: 0 h-index: 0机构: NIAID, Host Def Lab, NIH, Bethesda, MD 20892 USA Texas Childrens Hosp, Baylor Coll Med, Dept Immunol Allergy & Rheumatol, 6621 Fannin St, Houston, TX 77030 USACasanova, Jean-Laurent论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA Paris Descartes Univ, Necker Hosp Sick Children, Imagine Inst, INSERM,HHMI, Paris, France Howard Hughes Med Inst, New York, NY USA Texas Childrens Hosp, Baylor Coll Med, Dept Immunol Allergy & Rheumatol, 6621 Fannin St, Houston, TX 77030 USAOrange, Jordan S.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Dept Immunol Allergy & Rheumatol, 6621 Fannin St, Houston, TX 77030 USA Texas Childrens Hosp, Baylor Coll Med, Dept Immunol Allergy & Rheumatol, 6621 Fannin St, Houston, TX 77030 USA
- [5] Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric SyndromeCLINICAL GENETICS, 2025, 107 (01) : 113 - 114Franco, Jose Francisco da Silva论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Sao Paulo, Brazil Univ Fed Sao Paulo, Sao Paulo, BrazilNeves, Raquel Leao论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Sao Paulo, Brazil Univ Fed Sao Paulo, Sao Paulo, BrazilMenezes, Alef Nascimento论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Sao Paulo, Brazil Univ Fed Sao Paulo, Sao Paulo, BrazilNogueira, Beatriz Ribeiro论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Sao Paulo, Brazil Univ Fed Sao Paulo, Sao Paulo, BrazilGomes, Caio Perez论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Sao Paulo, Brazil Univ Fed Sao Paulo, Sao Paulo, BrazilPesquero, Joao Bosco论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Sao Paulo, Brazil Univ Fed Sao Paulo, Sao Paulo, Brazil
- [6] Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndromeGENE, 2016, 586 (01) : 1 - 6Lee, Way Seah论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Med Ctr, Dept Paediat, Kuala Lumpur 50603, Malaysia Univ Malaya, Med Ctr, Univ Malaya Paediat & Child Hlth Res Grp, Kuala Lumpur 50603, Malaysia Univ Malaya, Med Ctr, Dept Paediat, Kuala Lumpur 50603, MalaysiaTeo, Kai Ming论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Med Ctr, Dept Paediat, Kuala Lumpur 50603, Malaysia Univ Malaya, Med Ctr, Dept Paediat, Kuala Lumpur 50603, MalaysiaNg, Ruey Terng论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Med Ctr, Dept Paediat, Kuala Lumpur 50603, Malaysia Univ Malaya, Med Ctr, Dept Paediat, Kuala Lumpur 50603, MalaysiaChong, Sze Yee论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Med Ctr, Dept Paediat, Kuala Lumpur 50603, Malaysia Univ Malaya, Med Ctr, Dept Paediat, Kuala Lumpur 50603, MalaysiaKee, Boon Pin论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Fac Med, Dept Biomed Sci, Kuala Lumpur 50603, Malaysia Univ Malaya, Med Ctr, Dept Paediat, Kuala Lumpur 50603, MalaysiaChua, Kek Heng论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Fac Med, Dept Biomed Sci, Kuala Lumpur 50603, Malaysia Univ Malaya, Med Ctr, Dept Paediat, Kuala Lumpur 50603, Malaysia
- [7] A diagnosis of trichorrhexis nodosa guiding a diagnosis of trichohepatoenteric syndrome and a TTC37 defectBRITISH JOURNAL OF DERMATOLOGY, 2017, 177 : 166 - 166Goodhead, C.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Newcastle Upon Tyne, Tyne & Wear, EnglandCant, A.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Newcastle Upon Tyne, Tyne & Wear, EnglandLeech, S.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Newcastle Upon Tyne, Tyne & Wear, England
- [8] Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South AfricaBMC MEDICAL GENETICS, 2017, 18Kinnear, Craig论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa论文数: 引用数: h-index:机构:Banda, Eric论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South AfricaSchlechter, Nikola论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South AfricaDurrheim, Glenda论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South AfricaNeethling, Annika论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South AfricaNel, Etienne论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, Dept Paediat & Child Hlth, Fac Med & Hlth Sci, Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South AfricaSchoeman, Mardelle论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa论文数: 引用数: h-index:机构:van Helden, Paul D.论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South AfricaHoal, Eileen G.论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South AfricaEsser, Monika论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, Tygerberg Hosp, Dept Pathol, Natl Hlth Lab Serv,Immunol Unit,Div Med Microbiol, Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South AfricaUrban, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South AfricaMoller, Marlo论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa Univ Stellenbosch, SA MRC Ctr TB Res, DST NRF Ctr Excellence Biomed TB Res, Div Mol Biol & Human Genet,Fac Med & Hlth Sci, POB 241, ZA-8000 Cape Town, South Africa
- [9] Novel Mutations in TTC37 Associated with Tricho-Hepato-Enteric SyndromeHUMAN MUTATION, 2011, 32 (03) : 277 - 281Fabre, Alexandre论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants La Timone, Serv Pediat Multidisciplinaire, F-13385 Marseille 5, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceMartinez-Vinson, Christine论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Ctr Reference Pathol Intestinales Rares, Serv Gastroenterol, F-75019 Paris, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceRoquelaure, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants La Timone, Serv Pediat Multidisciplinaire, F-13385 Marseille 5, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceMissirian, Chantal论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants La Timone, Lab Cytogenet, F-13385 Marseille 5, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceAndre, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants La Timone, Serv Pediat Oncol, F-13385 Marseille 5, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceBreton, Anne论文数: 0 引用数: 0 h-index: 0机构: Hop Enfant Toulouse, Serv Hepatol & Malad Metab, Toulouse, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceLachaux, Alain论文数: 0 引用数: 0 h-index: 0机构: Hop Femme Mere Enfant Lyon, Unite Fonct Nutr, Lyon, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceOdul, Egritas论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Sch Med, Dept Pediat Gastroenterol, Ankara, Turkey Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceColomb, Virginie论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Ctr Reference Pathol Intestinales Rares, Serv Gastroenterol, Paris, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceLemale, Julie论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, Paris, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceCezard, Jean-Pierre论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Ctr Reference Pathol Intestinales Rares, Serv Gastroenterol, F-75019 Paris, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceGoulet, Olivier论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Ctr Reference Pathol Intestinales Rares, Serv Gastroenterol, Paris, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceSarles, Jacques论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants La Timone, Serv Pediat Multidisciplinaire, F-13385 Marseille 5, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceLevy, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Univ Mediterranee, Fac Med, Unite Inserm U910, Marseille, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, FranceBadens, Catherine论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, France Univ Mediterranee, Fac Med, Unite Inserm U910, Marseille, France Hop Enfants La Timone, Genet Mol Lab, Dept Genet, F-13385 Marseille 5, France
- [10] A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe DiarrheaJOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY, 2019, 29 (05) : 396 - 398Edeer, Karaca N.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Dept Pediat, Fac Med, Izmir, Turkey Ege Univ, Dept Pediat, Fac Med, Izmir, Turkey论文数: 引用数: h-index:机构:Pariltay, E.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Dept Med Genet, Fac Med, Izmir, Turkey Ege Univ, Dept Pediat, Fac Med, Izmir, Turkey论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Kutukculer, N.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Dept Pediat, Fac Med, Izmir, Turkey Ege Univ, Dept Pediat, Fac Med, Izmir, Turkey