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Publications by André Reis
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
American Journal of Human Genetics
Genetics
Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
American Journal of Human Genetics
Genetics
Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
American Journal of Human Genetics
Genetics
Genetic and Neurodevelopmental Spectrum ofSYNGAP1-associated Intellectual Disability and Epilepsy
Journal of Medical Genetics
Genetics
Cost Effectiveness of Bilateral Risk-Reducing Mastectomy and Salpingo-Oophorectomy
European Journal of Medical Research
Medicine
The Gene for Human Fibronectin Glomerulopathy Maps to 1q32, in the Region of the Regulation of Complement Activation Gene Cluster
American Journal of Human Genetics
Genetics
Localization of the Gene Causing Keratolytic Winter Erythema to Chromosome 8p22-P23, and Evidence for a Founder Effect in South African Afrikaans-Speakers
American Journal of Human Genetics
Genetics
A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts
American Journal of Human Genetics
Genetics
Severely Incapacitating Mutations in Patients With Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator
American Journal of Human Genetics
Genetics
Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23
American Journal of Human Genetics
Genetics
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