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Human Molecular Genetics|January 15, 1999
The spectrum of mutations in UBE3A causing Angelman syndromeP Fang, E Lev-Lehman, T F Tsai, et al.Clinical Genetics|August 2, 2011
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthoodM Klaassens, E Reinstein, Y Hilhorst-Hofstee, et al.Human Genetics|November 10, 2001
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformationsM J Rosenberg, C Killoran, L Dziadzio, et al.Human Molecular Genetics|July 13, 1999
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeD J Marsh, J B Kum, K L Lunetta, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathyF Tran Mau-Them, L Guibaud, L Duplomb, et al.Pageof 32