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Journal of Medical Genetics|May 1, 1991
Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndromeZ Borochowitz, B Glick, S BlazerJournal of Medical Genetics|May 11, 1991
Hypercoagulability in a patient with Marfan syndromeJ E Humphries, G A Stouffer, T E Kelly, et al.Journal of Medical Genetics|May 1, 1991
Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotypeA Schinzel, F Binkert, D M Lillington, et al.Journal of Medical Genetics|February 5, 2022
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?Belen Garcia, Nuria Catasus, Andrea Ros, et al.Journal of Medical Genetics|June 21, 2019
Genetic T-type calcium channelopathiesNorbert Weiss, Gerald W ZamponiJournal of Medical Genetics|June 21, 2019
Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in FinnsEeva Sliz, Marita Kalaoja, Ari Ahola-Olli, et al.Journal of Medical Genetics|November 1, 1987
Fetal valproate syndrome: is there a recognisable phenotype?R M Winter, D Donnai, J Burn, et al.Journal of Medical Genetics|February 1, 1988
Familial ectopic ossificationR J Gardner, K Yun, S M CrawJournal of Medical Genetics|June 13, 2019
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patientsBaoheng Gui, Yanning Song, Zhe Su, et al.Journal of Medical Genetics|September 1, 1987
Linkage analysis of neurofibromatosisS Kittur, M L Lubs, M Bauer, et al.Pageof 649