Showing results (51-60 of 289) with videos related to
Sort By:
Pageof 29
Birth Defects Research. Part A, Clinical and Molecular Teratology|August 27, 2004
Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?Elizabeth McPherson, Dale Huff, Jeanette Dunn, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 24, 2018
The etiology of VACTERL association: Current knowledge and hypothesesBenjamin D SolomonMolecular Syndromology|April 9, 2015
Genomic sequencing and the impact of molecular diagnosis on patient careBenjamin D SolomonAmerican Journal of Medical Genetics. Part A|October 31, 2009
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmiaBenjamin D Solomon, Daniel E Pineda-Alvarez, Joan Z Balog, et al.Current Opinion in Pediatrics|May 23, 2023
The future of commercial genetic testingBenjamin D SolomonMolecular Genetics and Metabolism|February 8, 2012
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactionsErich Roessler, Jorge I Vélez, Nan Zhou, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 6, 2020
Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specificCedrik Tekendo-Ngongang, Babajide Owosela, Maximilian Muenke, et al.Molecular Genetics & Genomic Medicine|February 21, 2019
An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countriesManjit Kaur, Donald W Hadley, Maximilian Muenke, et al.Clinical Genetics|July 9, 2019
Novel heterozygous variants in KMT2D associated with holoprosencephalyCedrik Tekendo-Ngongang, Paul Kruszka, Ariel F Martinez, et al.Pageof 29