Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Abnormalities, Multiple/epidemiology"'
Autor:
Hilde Van Esch, Joris Vermeesch, Louise Gallagher, Eric Legius, Griet Van Buggenhout, Thomy de Ravel, Laura Vandenhove, Peter Aerssens, Nele Cosemans, Koenraad Devriendt, Annick Vogels, Sanbing Shen, Hilde Olivié, Jacqueline Fitzgerald, Hilde Peeters, Jeroen Breckpot, Els Ortibus
Publikováno v:
Journal of Medical Genetics. 57:347-355
BackgroundIntragenic NRXN1 deletions are susceptibility variants for neurodevelopmental disorders; however, their clinical interpretation is often unclear. Therefore, a literature study and an analysis of 43 previously unpublished deletions are provi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c857a9e8bca50014a388e16fe900e5
https://doi.org/10.1136/jmedgenet-2019-106448
https://doi.org/10.1136/jmedgenet-2019-106448
Autor:
Majeed-Saidan, Muhammad Ali, Ammari, Amer N, AlHashem, Amal M, Al Rakaf, Maha S, Shoukri, Mohamed M, Garne, Ester, Kurdi, Ahmed Mohammed
Publikováno v:
Majeed-Saidan, M A, Ammari, A N, AlHashem, A M, Al Rakaf, M S, Shoukri, M M, Garne, E & Kurdi, A M 2015, ' Effect of consanguinity on birth defects in Saudi women; results from a nested case-control study ', Birth Defects Research. Part A: Clinical and Molecular Teratology, vol. 103, no. 2, pp. 100–104 . https://doi.org/10.1002/bdra.23331
BACKGROUND: The role of consanguinity in the etiology of structural birth defects outside of chromosomal and inherited disorders has always been debated. We studied the independent role of consanguinity on birth defects in Saudi women with a high pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3062::165db5d249adc505f79580c980b1f0f0
https://portal.findresearcher.sdu.dk/da/publications/26b56276-d058-440f-a099-77305bdcac16
https://portal.findresearcher.sdu.dk/da/publications/26b56276-d058-440f-a099-77305bdcac16
Autor:
Marie-Claude Addor, Diana Wellesley, Judith Rankin, Ingeborg Barišić, L. Arriola, Anke Rissmann, Hanitra Randrianaivo, Vera Nelen, Catherine Rounding, Paula Braz, Bob McDonnell, Ester Garne, Antonin Sipek, Martin Haeusler, Anette Queisser-Luft, Bérénice Doray, Elizabeth S Draper, Wladimir Wertelecki, Kari Klungsøyr, Kate E. Best, Anna Latos-Bielenska, Elisa Calzolari, Fabrizio Bianchi, Mary O'Mahony, Carmel Mullaney, Rosie Thompson, Judit Béres, Ruth Greenlees, Hermien E. K. de Walle, Mark R. McGivern, Babak Khoshnood, David Tucker, Miriam Gatt, Carmen Martos
Publikováno v:
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 100(2), F137-F144. BMJ PUBLISHING GROUP
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
McGivern, M R, Best, K E, Rankin, J, Wellesley, D, Greenlees, R, Addor, M-C, Arriola, L, de Walle, H, Barisic, I, Beres, J, Bianchi, F, Calzolari, E, Doray, B, Draper, E S, Garne, E, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, Latos-Bielenska, A, O'Mahony, M, Braz, P, McDonnell, B, Mullaney, C, Nelen, V, Queisser-Luft, A, Randrianaivo, H, Rissmann, A, Rounding, C, Sipek, A, Thompson, R, Tucker, D, Wertelecki, W & Martos, C 2015, ' Epidemiology of congenital diaphragmatic hernia in Europe : a register-based study ', Archives of Disease in Childhood. Fetal and Neonatal Edition, vol. 100, no. 2, pp. F137-F144 . https://doi.org/10.1136/archdischild-2014-306174
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
McGivern, M R, Best, K E, Rankin, J, Wellesley, D, Greenlees, R, Addor, M-C, Arriola, L, de Walle, H, Barisic, I, Beres, J, Bianchi, F, Calzolari, E, Doray, B, Draper, E S, Garne, E, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, Latos-Bielenska, A, O'Mahony, M, Braz, P, McDonnell, B, Mullaney, C, Nelen, V, Queisser-Luft, A, Randrianaivo, H, Rissmann, A, Rounding, C, Sipek, A, Thompson, R, Tucker, D, Wertelecki, W & Martos, C 2015, ' Epidemiology of congenital diaphragmatic hernia in Europe : a register-based study ', Archives of Disease in Childhood. Fetal and Neonatal Edition, vol. 100, no. 2, pp. F137-F144 . https://doi.org/10.1136/archdischild-2014-306174
INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4db2377eca8b940304dc2a577bde8b69
https://pubmed.ncbi.nlm.nih.gov/25411443
https://pubmed.ncbi.nlm.nih.gov/25411443
Autor:
Faivre, L., Guardiola, P., Lewis, C., Dokal, I., Ebell, W., Zatterale, A., Altay, C., Poole, J., Stones, D., Kwee, M. L., Weel-Sipman, M., Havenga, C., Morgan, N., Winter, J., Digweed, M., Savoia, A., Pronk, J., Thomy de Ravel, Jansen, S., Joenje, H., Gluckman, E., Mathew, C. G.
Publikováno v:
Vrije Universiteit Brussel
Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder. Clinical care is complicated by variable age at onset and severity of hematologic symptoms. Recent advances in the molecular biology of FA have allowed us to investigate the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::378c834e4fde747326cf97d956c15d71
http://hdl.handle.net/11368/1701481
http://hdl.handle.net/11368/1701481
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