المؤلفون: Mahdi Moradi Marjaneh, Edwin P Kirk, Ralph Patrick, Dimuthu Alankarage, David T Humphreys, Gonzalo Del Monte-Nieto, Paola Cornejo-Paramo, Vaibhao Janbandhu, Tram B Doan, Sally L Dunwoodie, Emily S Wong, Chris Moran, Ian CA Martin, Peter C Thomson, Richard P Harvey

المصدر: eLife, Vol 12 (2023)

مصطلحات موضوعية: quantitative trait loci, genomics, cardiac congenital defects, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/83606Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/b0e177240240418384f4ea4e88aaa1c8Test

المؤلفون: Stefan Bagheri-Fam, Dimuthu Alankarage, Emily R. Frost, Vincent R. Harley

المصدر: Data in Brief, Vol 42, Iss , Pp 108230- (2022)

مصطلحات موضوعية: ATRX, Sertoli cells, Microarray, Testis development, Spermatogenesis, Androgen receptor, Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352340922004322Test; https://doaj.org/toc/2352-3409Test

الوصول الحر: https://doaj.org/article/d830765696c84c9f80a99ae643470cd8Test

المؤلفون: Louisa Ludbrook, Dimuthu Alankarage, Stefan Bagheri-Fam, Vincent Harley

المصدر: Data in Brief, Vol 9, Iss C, Pp 194-198 (2016)

مصطلحات موضوعية: SOX9, NT2/D1 cells, Microarray, Sex determination, Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352340916305480Test; https://doaj.org/toc/2352-3409Test

الوصول الحر: https://doaj.org/article/8ad109924a0e41ebaec19daeb2e52512Test

المؤلفون: Andrian Yang, Dimuthu Alankarage, Hartmut Cuny, Eddie K.K. Ip, Moran Almog, Jessica Lu, Debjani Das, Annabelle Enriquez, Justin O. Szot, David T. Humphreys, Gillian M. Blue, Joshua W.K. Ho, David S. Winlaw, Sally L. Dunwoodie, Eleni Giannoulatou

المصدر: Circulation: Genomic and Precision Medicine. 15

مصطلحات موضوعية: Heart Defects, Congenital, Humans, Exome, General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e7f54b93899b8913377970d78957fcTest
https://doi.org/10.1161/circgen.121.003539Test

المؤلفون: Matthew S. Edwards, David S. Winlaw, Dimuthu Alankarage, Kavitha R Iyer, Bernadette C Hanna, Steven Monger, Gavin Chapman, Victoria C. O'Reilly, Justin O. Szot, Michelle Yam, Annabelle Enriquez, Julie L. M. Moreau, Ella M M A Martin, Sally L. Dunwoodie, Duncan B. Sparrow, Helen E. Ritchie, Joelene A Greasby, Eleni Giannoulatou, Hongjun Shi, Gillian M. Blue, Eddie I P, Stuart M. Grieve

المصدر: Hum Mol Genet

مصطلحات موضوعية: Heart Defects, Congenital, Male, Notch signaling pathway, Disease, Biology, medicine.disease_cause, Mice, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Animals, Humans, Missense mutation, Genetic Predisposition to Disease, Receptor, Notch1, Allele, Molecular Biology, Exome, Genetics (clinical), Exome sequencing, 030304 developmental biology, Mice, Knockout, 0303 health sciences, Mutation, 030305 genetics & heredity, Genomics, General Medicine, Penetrance, Mice, Inbred C57BL, Case-Control Studies, Female, Gene-Environment Interaction, General Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f4aedb11c92ae713b9b813716d7b59Test
https://doi.org/10.1093/hmg/ddz270Test

المؤلفون: Gavin Chapman, Michael Troup, Joshua W. K. Ho, Gillian M. Blue, Annabelle Enriquez, Eleni Giannoulatou, Meredith Wilson, Edwin P. Kirk, Jacob E Munro, Eddie Ip, David T. Humphreys, Gary F. Sholler, Robert M. Graham, Nicholas Pachter, David S. Winlaw, Sally L. Dunwoodie, Katrina Harrison, Hartmut Cuny, Dimuthu Alankarage, Justin O. Szot, Richard P. Harvey

المصدر: Genetics in Medicine. 21:1111-1120

مصطلحات موضوعية: 0301 basic medicine, Proband, medicine.medical_specialty, Molecular pathology, business.industry, Disease, 030105 genetics & heredity, Bioinformatics, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, Cohort, medicine, Etiology, Medical genetics, business, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dbd57ce9ae84d41e9fd8fad8e71c5d83Test
https://doi.org/10.1038/s41436-018-0296-xTest

المؤلفون: Gavin Chapman, Licia Selleri, Anne Slavotinek, Joseph T. Shieh, David S. Winlaw, Eleni Giannoulatou, Nick Pachter, Dimuthu Alankarage, Sally L. Dunwoodie, Justin O. Szot

المصدر: Human molecular genetics, vol 29, iss 7
Hum Mol Genet

مصطلحات موضوعية: Male, Pathology, Heart disease, medicine.disease_cause, Cardiovascular, Medical and Health Sciences, Whole Exome Sequencing, Mice, Congenital, hemic and lymphatic diseases, Missense mutation, Persistent, 2.1 Biological and endogenous factors, Exome, Aetiology, Genetics (clinical), Tetralogy of Fallot, Heart Defects, Pediatric, Genetics & Heredity, 0303 health sciences, Mutation, 030305 genetics & heredity, Pre-B-Cell Leukemia Transcription Factor 1, General Medicine, Biological Sciences, Pedigree, medicine.anatomical_structure, Phenotype, Heart Disease, Female, General Article, Heart Defects, Congenital, Adult, medicine.medical_specialty, Truncus Arteriosus, Heterozygote, Mutation, Missense, Biology, 03 medical and health sciences, Rare Diseases, Exome Sequencing, medicine, Genetics, Animals, Humans, Molecular Biology, 030304 developmental biology, Persistent Truncus Arteriosus, Lung, Animal, Infant, Heterozygote advantage, medicine.disease, Ectopic kidney, Truncus Arteriosus, Persistent, Disease Models, Animal, Disease Models, Congenital Structural Anomalies, Missense, CRISPR-Cas Systems

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4323d6b5ef92216fdce2148be0d06864Test
https://escholarship.org/uc/item/6361t6d7Test

المؤلفون: R. Lavery, Sabine Kelly, Louisa Mabel Ludbrook, Terje Svingen, Peter Koopman, Vincent R. Harley, Dimuthu Alankarage, Stefan Bagheri-Fam

المصدر: The International Journal of Biochemistry & Cell Biology. 79:41-51

مصطلحات موضوعية: Male, 0301 basic medicine, endocrine system, Cell type, animal structures, Somatic cell, SOX9, Biology, Biochemistry, ETV1, Cell Line, Gene Knockout Techniques, Mice, 03 medical and health sciences, stomatognathic system, FGF9, medicine, Animals, Sertoli Cells, Gene Expression Regulation, Developmental, SOX9 Transcription Factor, Cell Biology, Sex reversal, musculoskeletal system, Sertoli cell, Molecular biology, Up-Regulation, DNA-Binding Proteins, Fertility, 030104 developmental biology, Testis determining factor, medicine.anatomical_structure, embryonic structures, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c33790dc54fa21baba06cac63af8a5b4Test
https://doi.org/10.1016/j.biocel.2016.08.005Test

المؤلفون: Dimuthu, Alankarage, Eddie, Ip, Justin O, Szot, Jacob, Munro, Gillian M, Blue, Katrina, Harrison, Hartmut, Cuny, Annabelle, Enriquez, Michael, Troup, David T, Humphreys, Meredith, Wilson, Richard P, Harvey, Gary F, Sholler, Robert M, Graham, Joshua W K, Ho, Edwin P, Kirk, Nicholas, Pachter, Gavin, Chapman, David S, Winlaw, Eleni, Giannoulatou, Sally L, Dunwoodie

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 21(5)

مصطلحات موضوعية: Heart Defects, Congenital, Male, Parents, Base Sequence, Whole Genome Sequencing, Chromosome Mapping, Genetic Variation, High-Throughput Nucleotide Sequencing, Genomics, Sequence Analysis, DNA, Cohort Studies, Mutation, Humans, Exome, Family, Female, Genetic Predisposition to Disease, Genetic Testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a125af059781f07e0500aba5b651efe8Test
https://pubmed.ncbi.nlm.nih.gov/30293987Test