Showing results (461-470 of 8,534) with videos related to
Sort By:
Pageof 854
American Journal of Medical Genetics|March 4, 2000
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndromeN M Lindor, Y Furuichi, S Kitao, et al.American Journal of Medical Genetics|March 4, 2000
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk geneS K Curtis, M D Hebert, B K SahaAmerican Journal of Medical Genetics|March 4, 2000
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individualD Sobetzko, G Eich, M Kalff-Suske, et al.American Journal of Medical Genetics|March 4, 2000
Recurrence risk for sibs of children with "sporadic" achondroplasiaG Mettler, F C FraserAmerican Journal of Medical Genetics|March 10, 2000
Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?P Franceschini, D Licata, G Di Cara, et al.American Journal of Medical Genetics|March 10, 2000
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorderN C Ho, C A Francomano, M van AllenAmerican Journal of Medical Genetics|March 10, 2000
Risk factors for cytogenetically normal holoprosencephaly in California: a population-based case-control studyL A Croen, G M Shaw, E J LammerAmerican Journal of Medical Genetics|March 10, 2000
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomeraseD K Grange, L E Kratz, N E Braverman, et al.American Journal of Medical Genetics|December 10, 1999
Unusual phenotype in partial trisomy 14E G Lemire, S CardwellAmerican Journal of Medical Genetics|December 10, 1999
De novo dup(X)(q22.1q25) in a girl with an abnormal phenotypeF Tihy, E Lemyre, N Lemieux, et al.Pageof 854