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European Journal of Obstetrics, Gynecology, and Reproductive Biology|April 10, 2017
Antenatal prognostic factor of fetal echogenic bowelCandice Ronin, Pierre Mace, Fabien Stenard, et al.Nature Reviews. Disease Primers|May 19, 2016
22q11.2 deletion syndromeDonna M McDonald-McGinn, Kathleen E Sullivan, Bruno Marino, et al.Nature Genetics|April 20, 2005
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebsShalini Jadeja, Ian Smyth, Jolanta E Pitera, et al.European Journal of Human Genetics : EJHG|January 13, 2011
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresiaMarie Cognet, Agnés Nougayrede, Valérie Malan, et al.Human Mutation|September 11, 2008
TCF4 deletions in Pitt-Hopkins SyndromeIrina Giurgea, Chantal Missirian, Pierre Cacciagli, et al.Orphanet Journal of Rare Diseases|December 13, 2019
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disordersMaude Grelet, Véronique Blanck, Sabine Sigaudy, et al.Clinical Genetics|December 28, 2020
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohortNicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud, et al.American Journal of Medical Genetics. Part A|June 4, 2016
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndromeAlice Masurel-Paulet, Amélie Piton, Sophie Chancenotte, et al.Archives of Neurology|August 12, 2009
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severityYoann Saillour, Nathalie Carion, Chloé Quelin, et al.American Journal of Medical Genetics. Part A|May 21, 2014
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?Cathryn J Poulton, Rachel Schot, Katja Seufert, et al.Pageof 10