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Journal of Medical Genetics|December 1, 1987
Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflexP J Peet, R R Pereira, J O Van Hemel, et al.Journal of Medical Genetics|December 28, 2020
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndromeSimona Amenta, Silvia Frangella, Giuseppe Marangi, et al.Journal of Medical Genetics|June 1, 1985
Hyperinsulinaemic hypoglycaemia in an infant with mosaic trisomy 13V S Smith, G P GiacoiaJournal of Medical Genetics|July 29, 2021
Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)Ellenore M Martin, Ying Zhu, Claudine M Kraan, et al.Journal of Medical Genetics|June 1, 1985
Seckel syndrome: an overdiagnosed syndromeE Thompson, M PembreyJournal of Medical Genetics|June 1, 1990
Facial measurements in the newborn (towards syndrome delineation)O O OmotadeJournal of Medical Genetics|June 1, 1990
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndromeS M Huson, C S Rodgers, C M Hall, et al.Journal of Medical Genetics|June 1, 1990
Winglets of the eye: dominant transmission of early adult pterygium of the conjunctivaF Hecht, M G ShoptaughJournal of Medical Genetics|March 19, 2013
High rate of mosaicism in individuals with Cornelia de Lange syndromeSylvia A Huisman, Egbert J W Redeker, Saskia M Maas, et al.Journal of Medical Genetics|March 19, 2013
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid lociDaphna Weissglas-Volkov, Carlos A Aguilar-Salinas, Elina Nikkola, et al.Pageof 649