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Birth Defects Research|January 10, 2018
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1Séverine Bacrot, Charlotte Mechler, Naima Talhi, et al.
Cellular and Molecular Gastroenterology and Hepatology|December 5, 2024
Chronic Gastroesophageal Reflux Dysregulates Proteostasis in Esophageal Epithelial CellsKodisundaram Paulrasu, Ravindran Caspa Gokulan, Wael El-Rifai, et al.
Birth Defects Research|August 1, 2017
Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 ObservationsSihem Darouich, Lucile Boutaud, Bettina Bessières, et al.
BMC Genomics|August 9, 2007
SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approachJacob L McCauley, Shannon J Kenealy, Elliott H Margulies, et al.
Genes and Immunity|December 13, 2005
Examination of seven candidate regions for multiple sclerosis: strong evidence of linkage to chromosome 1q44S J Kenealy, L A Herrel, Y Bradford, et al.
Prenatal Diagnosis|April 18, 2024
Artificial intelligence-based diagnosis in fetal pathology using external ear shapesQuentin Hennocq, Nicolas Garcelon, Thomas Bongibault, et al.
Investigative Ophthalmology & Visual Science|August 29, 2007
Haplotypes spanning the complement factor H gene are protective against age-related macular degenerationKylee L Spencer, Michael A Hauser, Lana M Olson, et al.
Ophthalmology|January 24, 2007
Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degenerationWilliam K Scott, Silke Schmidt, Michael A Hauser, et al.
Neurogenetics|February 3, 2009
Examination of association of genes in the serotonin system to autismB M Anderson, N C Schnetz-Boutaud, J Bartlett, et al.
Birth Defects Research|January 23, 2018
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral patternSuzanne Chartier, Caroline Alby, Lucile Boutaud, et al.
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