Alan Fryer
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
2015/07/30 by Lot Snijders Blok, Lot Snijders Blok, Erik Madsen +123 · 30 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Psychology · #Biology #Congenital heart defects research #Gene #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Genetics #Genetics and Neurodevelopmental Disorders #Intellectual disability #Medicine #Mutation #Psychology #Signal transduction #Wnt signaling pathway
- Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017/08/09 by Lynette G. Sadleir, Emily I. Mountier, Emily Mountier +354 · 29 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Genomics and Rare Diseases #Genetics and Neurodevelopmental Disorders
- Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
2013/08/08 by Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto-van Silfhout +98 · 3 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer Mechanisms and Therapy #Cancer-related gene regulation #Chromatin Remodeling and Cancer
- Autism, language and communication in children with sex chromosome trisomies
2010/07/23 by D. V. M. Bishop, Dorothy Bishop, P. A. Jacobs +23 · 26 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Autism #Chromosome #Developmental psychology #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Genetics #Medicine #Pediatrics #Prenatal Screening and Diagnostics #Psychiatry #Sexual Differentiation and Disorders #Trisomy
- Meier-Gorlin syndrome: Report of eight additional cases and review
2001/01/01 by Ernie M.H.F. Bongers, John M. Opitz, Alan Fryer +11 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer and Skin Lesions #Congenital limb and hand anomalies #Hedgehog Signaling Pathway Studies