Showing results (211-220 of 262) with videos related to

Sort By:
Pageof 27
AJNR. American Journal of Neuroradiology|October 30, 2020
Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular DisordersG Talenti, C Robson, M S Severino, et al.
Human Genetics|December 24, 1997
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrixH Winter, M A Rogers, M Gebhardt, et al.
American Journal of Medical Genetics|October 1, 1994
Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome?D Chitayat, L Moore, M R Del Bigio, et al.
Clinical Genetics|October 9, 2016
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactylyK D Kernohan, A McBride, Y Xi, et al.
American Journal of Medical Genetics|December 1, 1991
Mucolipidosis type IV: clinical manifestations and natural historyD Chitayat, C M Meunier, K A Hodgkinson, et al.
American Journal of Diseases of Children (1960)|October 1, 1987
Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndromeD Chitayat, S Y Hahm, R W Marion, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|January 16, 2007
OEIS complex: prenatal ultrasound and autopsy findingsZ Ben-Neriah, S Withers, M Thomas, et al.
Human Mutation|January 1, 1994
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestriesY Ma, M S Liu, D Chitayat, et al.
Annals of Internal Medicine|August 8, 1998
Families with autosomal dominant brachydactyly type E, short stature, and severe hypertensionH R Toka, S Bähring, D Chitayat, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4')D Chitayat, J Chemke, K M Gibson, et al.
Pageof 27