Showing results (1-10 of 28) with videos related to
Sort By:
Pageof 3
Clinical Dysmorphology|June 9, 2006
Oculoauriculovertebral spectrum with 5p15.33-pter deletionMaria DescartesClinical Case Reports|March 14, 2018
Congenital central hypoventilation syndrome mimicking mitochondrial diseaseKitiwan Rojnueangnit, Maria DescartesJournal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|April 20, 2005
Congenital oculomotor nerve synkinesis associated with fetal retinoid syndromeDavid G Morrison, Frederick J Elsas, Maria DescartesJournal of Pediatric Genetics|November 16, 2018
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment OutcomeJariya Upadia, Alicia Gomes, Peter Weiser, et al.American Journal of Medical Genetics. Part A|July 16, 2008
Constitutional H19 hypermethylation in a patient with isolated cardiac tumorMaria Descartes, Robb Romp, Judy Franklin, et al.Pediatric Neurology|September 13, 2011
Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopiaMaria Descartes, Fady M Mikhail, Judith C Franklin, et al.American Journal of Medical Genetics. Part A|June 29, 2010
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1Graeme Nimmo, Sarah Monsonego, Maria Descartes, et al.Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 27, 2021
Placental Pathology in Maternal Ornithine Transcarbamylase DeficiencyAngela R Seasely, Rachel G Sinkey, Sarah Joy Dean, et al.The Neurohospitalist|June 19, 2024
Short Report: Clinical Features and Epilepsy Monitoring in an Adult With 22q11.2 Deletion SyndromeMike W Zhang, Stephanie T Bustros, Tyler E Gaston, et al.Mitochondrion|November 11, 2009
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skippingJack Q Ji, David Dimmock, Lin-Ya Tang, et al.Pageof 3