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Birth Defects Research|April 23, 2020
Maternal risk factors for the VACTERL association: A EUROCAT case-control studyRomy van de Putte, Iris A L M van Rooij, Cynthia P Haanappel, et al.
Pediatric Research|September 10, 2019
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based studyRomy van de Putte, Iris A L M van Rooij, Carlo L M Marcelis, et al.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
Human Mutation|November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.
Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
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