共 39 条
- [21] Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitisPediatric Research, 2024, 95 : 146 - 155Jun Yasuhara论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchSathiya N. Manivannan论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchUddalak Majumdar论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchDavid M. Gordon论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchPatrick J. Lawrence论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchMona Aljuhani论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchKatherine Myers论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchCorey Stiver论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchAmee M. Bigelow论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchMark Galantowicz论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchHiroyuki Yamagishi论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchKim L. McBride论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchPeter White论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular ResearchVidu Garg论文数: 0 引用数: 0 h-index: 0机构: Abigail Wexner Research Institute,Center for Cardiovascular Research
- [22] Mosaic MAP2K1 pathogenic variant as a cause of spilus-type congenital melanocytic naevus associated with melanoma developmentBRITISH JOURNAL OF DERMATOLOGY, 2020, 183 : 26 - 26Muthiah, S.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Upon Tyne Hosp NHS Fdn Trust, Dermatol Dept, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandPolubothu, S.论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med, London, England Great Ormond St Hosp Children NHS Fdn Trust, Paediat Dermatol, London, England Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandHusain, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Upon Tyne Hosp NHS Fdn Trust, Dept Cellular Pathol, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandOliphant, T.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Upon Tyne Hosp NHS Fdn Trust, Dermatol Dept, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandKinsler, V.论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med, London, England Great Ormond St Hosp Children NHS Fdn Trust, Paediat Dermatol, London, England Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England论文数: 引用数: h-index:机构:
- [23] Congenital fatal cap-rod myopathy due to a de novo autosomal dominant pathogenic ACTA1 variantNEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2019, 45 : 35 - 36Phadke, R.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, England UCL Queen Sq Inst Neurol, London, England Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, EnglandHerron, B.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Hosp, Belfast, Antrim, North Ireland Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, EnglandHurrell, D.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Hosp, Belfast, Antrim, North Ireland Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, EnglandCraig, S.论文数: 0 引用数: 0 h-index: 0机构: Royal Matern Hosp, Belfast, Antrim, North Ireland Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, EnglandKelly, B.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Hosp, Belfast, Antrim, North Ireland Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, EnglandMein, R.论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, Viapath Mol Genet Lab, London, England Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, EnglandSarkozy, A.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, England UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, EnglandSewry, C.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, England UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, EnglandMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, England UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, EnglandMcConnell, V.论文数: 0 引用数: 0 h-index: 0机构: Belfast City Hosp, Belfast, Antrim, North Ireland Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, England
- [24] Congenital fatal cap-rod myopathy due to a de novo autosomal dominant pathogenic ACTA1 variantNEUROMUSCULAR DISORDERS, 2018, 28 : S103 - S103Phadke, R.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England UCL Inst Neurol, London, EnglandHerron, B.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Hosp, Belfast, Antrim, North Ireland UCL Inst Neurol, London, EnglandHurrell, D.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Hosp, Belfast, Antrim, North Ireland UCL Inst Neurol, London, EnglandCraig, S.论文数: 0 引用数: 0 h-index: 0机构: Royal Matern Hosp, Belfast, Antrim, North Ireland UCL Inst Neurol, London, EnglandKelly, B.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Hosp, Belfast, Antrim, North Ireland UCL Inst Neurol, London, EnglandSarkozy, A.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, London, England UCL Inst Neurol, London, EnglandSewry, C.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, London, England UCL Inst Neurol, London, EnglandMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, London, England UCL Inst Neurol, London, EnglandMcConnell, V.论文数: 0 引用数: 0 h-index: 0机构: Belfast City Hosp, Belfast, Antrim, North Ireland UCL Inst Neurol, London, England
- [25] A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient with suspected Lynch syndrome: A case reportJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2023, 38 : 29 - 29论文数: 引用数: h-index:机构:Clendenning, M.论文数: 0 引用数: 0 h-index: 0机构: Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, Melbourne, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, AustraliaJoo, J. E.论文数: 0 引用数: 0 h-index: 0机构: Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, Melbourne, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, AustraliaXue, J.论文数: 0 引用数: 0 h-index: 0机构: Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, Melbourne, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, Australia论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Como, J.论文数: 0 引用数: 0 h-index: 0机构: Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, Melbourne, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, Australia论文数: 引用数: h-index:机构:Preston, S. G.论文数: 0 引用数: 0 h-index: 0机构: Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, Melbourne, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, AustraliaChan, J. M.论文数: 0 引用数: 0 h-index: 0机构: Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, Melbourne, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, AustraliaJenkins, M. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, Melbourne, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, Australia论文数: 引用数: h-index:机构:Macrae, F. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Med, Melbourne, Vic, Australia Genom Med & Familial Canc Ctr, Melbourne, Vic, Australia Royal Melbourne Hosp, Colorectal Med & Genet, Parkville, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, AustraliaDi Palma, S.论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Clin Genet Unit, Melbourne, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, AustraliaCampbell, A.论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Clin Genet Unit, Melbourne, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, AustraliaWinship, I. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Med, Melbourne, Vic, Australia Genom Med & Familial Canc Ctr, Melbourne, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, AustraliaBuchanan, D. D.论文数: 0 引用数: 0 h-index: 0机构: Genom Med & Familial Canc Ctr, Melbourne, Vic, Australia Colorectal Oncogen Grp, Dept Clin Pathol, Melbourne, Vic, Australia
- [26] Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitutionJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022, 35 (07): : 946 - 952Adiyaman, Suleyman Cem论文数: 0 引用数: 0 h-index: 0机构: Ulm Univ, Ctr Rare Endocrine Dis, Dept Pediat & Adolescent Med, Div Pediat Endocrinol & Diabet,Med Ctr, Ulm, Germany Ulm Univ, Ctr Rare Endocrine Dis, Dept Pediat & Adolescent Med, Div Pediat Endocrinol & Diabet,Med Ctr, Ulm, GermanySchnurbein, Julia, V论文数: 0 引用数: 0 h-index: 0机构: Ulm Univ, Ctr Rare Endocrine Dis, Dept Pediat & Adolescent Med, Div Pediat Endocrinol & Diabet,Med Ctr, Ulm, Germany Ulm Univ, Ctr Rare Endocrine Dis, Dept Pediat & Adolescent Med, Div Pediat Endocrinol & Diabet,Med Ctr, Ulm, Germany论文数: 引用数: h-index:机构:Hahn, Andreas论文数: 0 引用数: 0 h-index: 0机构: Justus Liebig Univ Giessen, Ctr Child & Adolescent Med, Dept Neuropediat, Giessen, Germany Ulm Univ, Ctr Rare Endocrine Dis, Dept Pediat & Adolescent Med, Div Pediat Endocrinol & Diabet,Med Ctr, Ulm, GermanySiebert, Reiner论文数: 0 引用数: 0 h-index: 0机构: Ulm Univ, Inst Human Genet, Ulm, Germany Ulm Univ, Med Ctr, Ulm, Germany Ulm Univ, Ctr Rare Endocrine Dis, Dept Pediat & Adolescent Med, Div Pediat Endocrinol & Diabet,Med Ctr, Ulm, GermanyWabitsch, Martin论文数: 0 引用数: 0 h-index: 0机构: Ulm Univ, Ctr Rare Endocrine Dis, Dept Pediat & Adolescent Med, Div Pediat Endocrinol & Diabet,Med Ctr, Ulm, Germany Ulm Univ, Ctr Rare Endocrine Dis, Dept Pediat & Adolescent Med, Div Pediat Endocrinol & Diabet,Med Ctr, Ulm, Germany论文数: 引用数: h-index:机构:
- [27] A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case reportFamilial Cancer, 2023, 22 : 423 - 428Romy Walker论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyMark Clendenning论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyJihoon E. Joo论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyJessie Xue论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyKhalid Mahmood论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyPeter Georgeson论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyJulia Como论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologySharelle Joseland论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologySusan G. Preston论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyJames M. Chan论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyMark A. Jenkins论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyChristophe Rosty论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyFinlay A. Macrae论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyStephanie Di Palma论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyAinsley Campbell论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyIngrid M. Winship论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical PathologyDaniel D. Buchanan论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Colorectal Oncogenomics Group, Department of Clinical Pathology
- [28] Lynch syndrome caused by di-genic events inherited MSH6 pathogenic variant and mosaic MLH1 methylationEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 931 - 931Isini, Maryam Safa论文数: 0 引用数: 0 h-index: 0机构: Islam Azad Univ, Rasht Branch, Dept Biol, Rasht, Iran Islam Azad Univ, Rasht Branch, Dept Biol, Rasht, IranNajmabadi, Hossein论文数: 0 引用数: 0 h-index: 0机构: Natl Univ, Fac Social Welf & Rehabil Sci, Tajrish, Iran Islam Azad Univ, Rasht Branch, Dept Biol, Rasht, IranSalehzadeh, Ali论文数: 0 引用数: 0 h-index: 0机构: Islam Azad Univ, Rasht Branch, Dept Biol, Rasht, Iran Islam Azad Univ, Rasht Branch, Dept Biol, Rasht, IranAjamian, Farzam论文数: 0 引用数: 0 h-index: 0机构: Univ Guilan, Dept Biol, Fac Sci, Rasht, Iran Islam Azad Univ, Rasht Branch, Dept Biol, Rasht, Iran
- [29] A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case reportFAMILIAL CANCER, 2023, 22 (04) : 423 - 428论文数: 引用数: h-index:机构:Clendenning, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, AustraliaJoo, Jihoon E.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, AustraliaXue, Jessie论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, Australia论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Como, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, Australia论文数: 引用数: h-index:机构:Preston, Susan G.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, AustraliaChan, James M.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, AustraliaJenkins, Mark A.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Ctr Epidemiol & Biostat, Parkville, Vic 3010, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, Australia论文数: 引用数: h-index:机构:Macrae, Finlay A.论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Genom Med & Familial Canc Ctr, Parkville, Vic 3000, Australia Royal Melbourne Hosp, Colorectal Med & Genet, Parkville, Vic 3000, Australia Univ Melbourne, Dept Med, Melbourne, Vic 3000, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, AustraliaDi Palma, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Clin Genet Unit, Melbourne, Vic 3084, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, AustraliaCampbell, Ainsley论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Clin Genet Unit, Melbourne, Vic 3084, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, AustraliaWinship, Ingrid M.论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Genom Med & Familial Canc Ctr, Parkville, Vic 3000, Australia Univ Melbourne, Dept Med, Melbourne, Vic 3000, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, AustraliaBuchanan, Daniel D.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, Australia Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, 305 Grattan St, Parkville, Vic 3010, Australia Royal Melbourne Hosp, Genom Med & Familial Canc Ctr, Parkville, Vic 3000, Australia Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, 305 Grattan St, Parkville, Vic 3010, Australia
- [30] An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1INTERNATIONAL JOURNAL OF ENDOCRINOLOGY, 2021, 2021论文数: 引用数: h-index:机构:Talebi, Saeed论文数: 0 引用数: 0 h-index: 0机构: Iran Univ Med Sci, Fac Med, Dept Med Genet, Tehran, Iran Iran Univ Med Sci, Cardiogenet Res Ctr, Rajaie Cardiovasc Med & Res Ctr, Tehran, Iran论文数: 引用数: h-index:机构:Sarkhail, Peymaneh论文数: 0 引用数: 0 h-index: 0机构: Atieh Hosp, Pediat Dept, Tehran, Iran Iran Univ Med Sci, Cardiogenet Res Ctr, Rajaie Cardiovasc Med & Res Ctr, Tehran, Iran论文数: 引用数: h-index:机构: