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- [1] 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
- [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] 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
- [4] Case report of a trichohepatoenteric syndrome due to heterozygous compound of novel mutations in ttc37 genEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 910 - 910Polo, B.论文数: 0 引用数: 0 h-index: 0机构: HUP La Fe, Serv Digest, Valencia, Spain HUP La Fe, Serv Digest, Valencia, SpainZuniga, A.论文数: 0 引用数: 0 h-index: 0机构: HUP La Fe, Unidad Genet, Valencia, Spain HUP La Fe, Serv Digest, Valencia, SpainMarin, P.论文数: 0 引用数: 0 h-index: 0机构: HUP La Fe, Serv Pediat, Valencia, Spain HUP La Fe, Serv Digest, Valencia, SpainParra, A.论文数: 0 引用数: 0 h-index: 0机构: HUP La Fe, Serv Pediat, Valencia, Spain HUP La Fe, Serv Digest, Valencia, SpainPedrola, L.论文数: 0 引用数: 0 h-index: 0机构: HUP La Fe, Unidad Genet, Valencia, Spain HUP La Fe, Serv Digest, Valencia, SpainCervera, J.论文数: 0 引用数: 0 h-index: 0机构: HUP La Fe, Unidad Genet, Valencia, Spain HUP La Fe, Serv Digest, Valencia, Spain
- [5] 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
- [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] NoveITTC37 mutations in a patient with immunodeficiency without diarrhea: extending the phenotype of trichohepatoenteric syndrome (vol 3, 2, 2015)FRONTIERS 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, Houston, TX 77030 USA Texas Childrens Hosp, Baylor Coll Med, Dept Immunol Allergy & Rheumatol, 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, 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, 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, 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, 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, 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, Houston, TX 77030 USA Texas Childrens Hosp, Baylor Coll Med, Dept Immunol Allergy & Rheumatol, Houston, TX 77030 USA
- [8] A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two familiesAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (03) : 727 - 732Fabre, Alexandre论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone, APHM, Serv Pediat Multidisciplinaire, Marseille, France Aix Marseille Univ, INSERM, MMG, Marseille, France Hop La Timone, APHM, Serv Pediat Multidisciplinaire, Marseille, FrancePetit, Laetitia-Marie论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, INSERM, MMG, Marseille, France Hop La Timone, APHM, Serv Pediat Multidisciplinaire, Marseille, FranceHansen, Lars F.论文数: 0 引用数: 0 h-index: 0机构: Hvidovre Univ Hosp, Dept Paediat, Copenhagen, Denmark Hop La Timone, APHM, Serv Pediat Multidisciplinaire, Marseille, FranceWewer, Anne V.论文数: 0 引用数: 0 h-index: 0机构: Hvidovre Univ Hosp, Dept Paediat, Copenhagen, Denmark Hop La Timone, APHM, Serv Pediat Multidisciplinaire, Marseille, FranceEsteve, Clothilde论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, INSERM, MMG, Marseille, France Hop La Timone, APHM, Serv Pediat Multidisciplinaire, Marseille, FranceChaix, Charlene论文数: 0 引用数: 0 h-index: 0机构: Hop Timone Enfant, APHM, Serv Biol Mol, Marseille, France Hop La Timone, APHM, Serv Pediat Multidisciplinaire, Marseille, FranceBourgeois, Patrice论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, INSERM, MMG, Marseille, France Hop Timone Enfant, APHM, Serv Biol Mol, Marseille, France Hop La Timone, APHM, Serv Pediat Multidisciplinaire, Marseille, FranceBadens, Catherine论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, INSERM, MMG, Marseille, France Hop Timone Enfant, APHM, Serv Biol Mol, Marseille, France Hop La Timone, APHM, Serv Pediat Multidisciplinaire, Marseille, FrancePaerregaard, Anders论文数: 0 引用数: 0 h-index: 0机构: Hvidovre Univ Hosp, Dept Paediat, Copenhagen, Denmark Hop La Timone, APHM, Serv Pediat Multidisciplinaire, Marseille, France
- [9] Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype A Global Case-report Study of a Well-Defined Syndrome With ImmunodeficiencyMEDICINE, 2016, 95 (09)Lee, Wen-I论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Univ, Coll Med, Primary Immunodeficiency Care & Res PICAR Inst, Chang Gung Mem Hosp, Taoyuan, Taiwan Chang Gung Univ, Coll Med, Div Allergy Asthma & Rheumatol, Dept Pediat,Chang Gung Mem Hosp, Taoyuan, Taiwan Chang Gung Univ, Coll Med, Primary Immunodeficiency Care & Res PICAR Inst, Chang Gung Mem Hosp, Taoyuan, TaiwanHuang, Jing-Long论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Univ, Coll Med, Primary Immunodeficiency Care & Res PICAR Inst, Chang Gung Mem Hosp, Taoyuan, Taiwan Chang Gung Univ, Coll Med, Div Allergy Asthma & Rheumatol, Dept Pediat,Chang Gung Mem Hosp, Taoyuan, Taiwan Chang Gung Univ, Coll Med, Primary Immunodeficiency Care & Res PICAR Inst, Chang Gung Mem Hosp, Taoyuan, TaiwanChen, Chien-Chang论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Mem Hosp, Div Gastroenterol, Taoyuan, Taiwan Chang Gung Univ, Coll Med, Primary Immunodeficiency Care & Res PICAR Inst, Chang Gung Mem Hosp, Taoyuan, TaiwanLin, Ju-Li论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Mem Hosp, Div Genet & Endocrinol, Taoyuan, Taiwan Chang Gung Univ, Coll Med, Primary Immunodeficiency Care & Res PICAR Inst, Chang Gung Mem Hosp, Taoyuan, TaiwanWu, Ren-Chin论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Mem Hosp, Dept Pathol, Taoyuan, Taiwan Chang Gung Univ, Coll Med, Primary Immunodeficiency Care & Res PICAR Inst, Chang Gung Mem Hosp, Taoyuan, TaiwanJaing, Tang-Her论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Univ, Coll Med, Div Allergy Asthma & Rheumatol, Dept Pediat,Chang Gung Mem Hosp, Taoyuan, Taiwan Chang Gung Mem Hosp, Div Hematol Oncol, Dept Pediat, Taoyuan, Taiwan Chang Gung Univ, Coll Med, Primary Immunodeficiency Care & Res PICAR Inst, Chang Gung Mem Hosp, Taoyuan, TaiwanOu, Liang-Shiou论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Univ, Coll Med, Div Allergy Asthma & Rheumatol, Dept Pediat,Chang Gung Mem Hosp, Taoyuan, Taiwan Chang Gung Univ, Coll Med, Primary Immunodeficiency Care & Res PICAR Inst, Chang Gung Mem Hosp, Taoyuan, Taiwan
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