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Birth Defects Research. Part A, Clinical and Molecular Teratology|November 3, 2005
Prenatal exposure to fluconazole: an identifiable dysmorphic phenotypeElena Lopez-Rangel, Margot Isham Van AllenEuropean Journal of Medical Genetics|June 4, 2013
Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autismPeter Wang, Prescilla Carrion, Ying Qiao, et al.Frontiers in Immunology|December 10, 2021
A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune DysregulationHenry Y Lu, Robert Sertori, Alejandra V Contreras, et al.Frontiers in Neurology|June 6, 2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset EpilepsyMichelle Demos, Ilaria Guella, Conrado DeGuzman, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 19, 2019
Rare SUZ12 variants commonly cause an overgrowth phenotypeSharri S Cyrus, Ana S A Cohen, Ruky Agbahovbe, et al.Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.Genome Medicine|April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersMadelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.Pageof 1