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Case Reports in Genetics|June 2, 2018
Ocular Manifestations of a Novel Proximal 19p13.3 MicrodeletionL Swan, D ComanPhilosophical Transactions. Series A, Mathematical, Physical, and Engineering Sciences|February 26, 2015
Couple stresses and the fracture of rockColin Atkinson, Ciprian D Coman, Javier AldazabalJournal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|July 25, 2006
Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-oldG Eather, D Coman, C Lander, et al.JIMD Reports|June 26, 2015
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?D Coman, P Lewindon, P Clayton, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutationsD Coman, S Klingberg, D Morris, et al.Clinical Genetics|May 9, 2008
The skeletal manifestations of the congenital disorders of glycosylationD Coman, M Irving, P Kannu, et al.Case Reports in Genetics|November 14, 2018
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney SyndromeL Swan, G Gole, V Sabesan, et al.Fetal Diagnosis and Therapy|January 30, 2009
Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1aA Malhotra, A Pateman, R Chalmers, et al.Fetal Diagnosis and Therapy|July 29, 2010
Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcomeD Coman, R J M Gardner, M D Pertile, et al.JIMD Reports|November 11, 2017
Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac TransplantationC Bursle, R Weintraub, C Ward, et al.Pageof 3