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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f4aedb11c92ae713b9b813716d7b59
https://doi.org/10.1093/hmg/ddz270 -
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المؤلفون: Robert D. Steiner, Yael Lebenthal, Aideen M. McInerney-Leo, Yline Capri, Daphné Lehalle, Adi Mory, Grażyna G Krzemień, Cathy L. Raggio, Monika Miklaszewska, Robert D. Blank, Hila Milo Rasouly, Ali G. Gharavi, Annabelle Enriquez, David T. Humphreys, Emma L. Duncan, Gavin Chapman, Elizabeth Wohler, Paul Leo, Jeanne Amiel, Eddie Ip, Clémantine Dimartino, Christopher T. Gordon, Yael Wilnai, Eleni Giannoulatou, Duncan B. Sparrow, Joelene A Greasby, Hagit Baris Feldman, Delicia Sheng, Rebekah Jobling, Kavitha R Iyer, Philip F Giampietro, Ella M M A Martin, Sally L. Dunwoodie, Nara Sobreira
المصدر: Hum Mol Genet
مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Heterozygote, RNA Splicing, Limb Deformities, Congenital, Anal Canal, Haploinsufficiency, Biology, Kidney, 03 medical and health sciences, Mice, 0302 clinical medicine, Esophagus, Loss of Function Mutation, Genetics, medicine, Missense mutation, Animals, Humans, Abnormalities, Multiple, Allele, Molecular Biology, Renal agenesis, Genetics (clinical), Heterozygote advantage, General Medicine, medicine.disease, VACTERL association, Null allele, Spine, DNA-Binding Proteins, Trachea, 030104 developmental biology, WBP11, RNA Splicing Factors, General Article, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9229c8b2fbc5fe323701900de73f4f
https://doi.org/10.1093/hmg/ddaa258