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American Journal of Medical Genetics. Part A|December 13, 2022
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screeningCathy D Vocke, Leah R Fleming, Anna M Piskorski, et al.
American Journal of Human Genetics|December 29, 2005
Discriminating power of localized three-dimensional facial morphologyPeter Hammond, Tim J Hutton, Judith E Allanson, et al.
Molecular Genetics and Metabolism|May 28, 2014
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityDavid R Adams, Hongjie Yuan, Todd Holyoak, et al.
The New England Journal of Medicine|February 8, 2008
Phenotype and course of Hutchinson-Gilford progeria syndromeMelissa A Merideth, Leslie B Gordon, Sarah Clauss, et al.
American Journal of Human Genetics|January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.
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