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American Journal of Medical Genetics. Part A|March 8, 2021
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathiesDena R Matalon, David A Stevenson, Elizabeth J Bhoj, et al.
Orphanet Journal of Rare Diseases|September 30, 2016
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing lossRebecca Buchert, Addie I Nesbitt, Hasan Tawamie, et al.
Pediatrics|August 3, 1999
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative StudyF Güttler, C Azen, P Guldberg, et al.
Pediatric Research|May 1, 2001
Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative StudyH L Levy, P Guldberg, F Güttler, et al.
American Journal of Medical Genetics|September 19, 1997
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagenP H Byers, M Duvic, M Atkinson, et al.
American Journal of Obstetrics and Gynecology|February 29, 2000
The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year studyL D Platt, R Koch, W B Hanley, et al.
American Journal of Medical Genetics|May 17, 1996
Fragile X syndrome in two siblings with major congenital malformationsP F Giampietro, B R Haas, E Lipper, et al.
The New England Journal of Medicine|June 10, 1982
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretionM L Batshaw, S Brusilow, L Waber, et al.
Molecular Genetics and Metabolism|June 22, 2021
Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturitySun H Peck, Yian Khai Lau, Jennifer L Kang, et al.
Annals of Neurology|July 14, 2000
Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan diseaseP Leone, C G Janson, L Bilaniuk, et al.
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