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Publications by Alan Fryer

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American Journal of Human Genetics
Genetics
2018English

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics
Genetics
2019English

Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

American Journal of Human Genetics
Genetics
2013English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics
Genetics
2019English

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American Journal of Human Genetics
Genetics
2018English

A Syndromic Form of Pierre Robin Sequence Is Caused by 5q23 Deletions Encompassing FBN2 and PHAX

European Journal of Medical Genetics
MedicineGenetics
2014English

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