Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Joelene A Greasby"'
Autor:
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
Publikováno v:
Hum Mol Genet
Congenital heart disease (CHD) is the most common birth defect and brings with it significant mortality and morbidity. The application of exome and genome sequencing has greatly improved the rate of genetic diagnosis for CHD but the cause in the majo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f4aedb11c92ae713b9b813716d7b59
https://doi.org/10.1093/hmg/ddz270
https://doi.org/10.1093/hmg/ddz270
Autor:
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
Publikováno v:
Hum Mol Genet
The genetic causes of multiple congenital anomalies are incompletely understood. Here, we report novel heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11 (WBP11) gene in seven un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9229c8b2fbc5fe323701900de73f4f
https://doi.org/10.1093/hmg/ddaa258
https://doi.org/10.1093/hmg/ddaa258
Autor:
Martin, Ella M M A, Enriquez, Annabelle, Sparrow, Duncan B, Humphreys, David T, McInerney-Leo, Aideen M, Leo, Paul J, Duncan, Emma L, Iyer, Kavitha R, Greasby, Joelene A, Ip, Eddie, Giannoulatou, Eleni, Sheng, Delicia, Wohler, Elizabeth, Dimartino, Clémantine, Amiel, Jeanne, Capri, Yline, Lehalle, Daphné, Mory, Adi, Wilnai, Yael, Lebenthal, Yael
Publikováno v:
Human Molecular Genetics; Nov2020, Vol. 29 Issue 22, p3662-3678, 17p
Autor:
Alankarage, Dimuthu, Szot, Justin O., Pachter, Nick, Slavotinek, Anne, Selleri, Licia, Shieh, Joseph T., Winlaw, David, Giannoulatou, Eleni, Chapman, Gavin, Dunwoodie, Sally L.
Publikováno v:
Human Molecular Genetics; Apr2020, Vol. 29 Issue 7, p1068-1082, 15p, 1 Black and White Photograph, 1 Diagram, 2 Charts, 5 Graphs
Autor:
Chapman, Gavin, Moreau, Julie L M, P, Eddie I, Szot, Justin O, Iyer, Kavitha R, Shi, Hongjun, Yam, Michelle X, O'Reilly, Victoria C, Enriquez, Annabelle, Greasby, Joelene A, Alankarage, Dimuthu, Martin, Ella M M A, Hanna, Bernadette C, Edwards, Matthew, Monger, Steven, Blue, Gillian M, Winlaw, David S, Ritchie, Helen E, Grieve, Stuart M, Giannoulatou, Eleni
Publikováno v:
Human Molecular Genetics; 2/15/2020, Vol. 29 Issue 4, p566-579, 14p