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Journal of Medical Genetics|April 18, 2008
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancerM Sun, F Ma, X Zeng, et al.Journal of Medical Genetics|December 1, 1990
Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutationsL Kalaydjieva, B Dworniczak, C Aulehla-Scholz, et al.Journal of Medical Genetics|March 23, 2021
Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitusHaipeng Pang, Ying Xia, Shuoming Luo, et al.Journal of Medical Genetics|December 25, 2021
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 geneAida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, et al.Journal of Medical Genetics|December 25, 2021
CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndromeGiovanni Corso, Francesca Magnoni, Giulia Massari, et al.Journal of Medical Genetics|May 1, 1990
Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probesA Cooke, W G Lanyon, D E Wilcox, et al.Journal of Medical Genetics|February 9, 2012
Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete molesPeter H Dixon, Pirada Trongwongsa, Shadi Abu-Hayyah, et al.Journal of Medical Genetics|September 1, 1990
Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter)D R Romain, J Goldsmith, H Cairney, et al.Journal of Medical Genetics|September 1, 1990
Another case of microcephaly, facial clefting, and preaxial polydactylyS L Marles, A E ChudleyJournal of Medical Genetics|October 18, 2011
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disabilityMarjolein H Willemsen, Astrid Vallès, Laurens A M H Kirkels, et al.Pageof 649