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The British Journal of Dermatology|April 1, 1996
First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus samplingJ A McGrath, M G Dunnill, A M Christiano, et al.The British Journal of Dermatology|November 28, 2002
Severe panniculitis caused by homozygous ZZ alpha1-antitrypsin deficiency treated successfully with human purified enzyme (Prolastin)M M U Chowdhury, E J Williams, J S Morris, et al.Journal of Medical Genetics|February 1, 1990
An exclusion map of Marfan syndromeS H Blanton, M Sarfarazi, H Eiberg, et al.Journal of Medical Genetics|September 3, 2002
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the moleculeA J Richards, J Morgan, P W P Bearcroft, et al.British Journal of Neurosurgery|January 1, 1991
Type III collagen mutations cause fragile cerebral arteriesF M Pope, B E Kendall, G I Slapak, et al.Nature Genetics|June 3, 2000
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticumO Le Saux, Z Urban, C Tschuch, et al.American Journal of Human Genetics|September 6, 2001
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticumO Le Saux, K Beck, C Sachsinger, et al.Genomics|December 10, 1999
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16O Le Saux, Z Urban, H H Göring, et al.Frontiers in Genetics|June 16, 2023
Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndromeC Angwin, J Zschocke, T Kammin, et al.Pageof 12