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Publications in Genetics
A Robust Example of Collider Bias in a Genetic Association Study
American Journal of Human Genetics
Genetics
Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics
American Journal of Human Genetics
Genetics
Activating Mutations in PAK1, Encoding P21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Autosomal-Dominant Woolly Hair Resulting From Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
American Journal of Human Genetics
Genetics
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , Which Encode Subcomponents C1r and C1s of Complement
American Journal of Human Genetics
Genetics
Genome-Wide Association of Copy-Number Variation Reveals an Association Between Short Stature and the Presence of Low-Frequency Genomic Deletions
American Journal of Human Genetics
Genetics
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
American Journal of Human Genetics
Genetics
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
American Journal of Human Genetics
Genetics
Pathogenic Abnormal Splicing Due to Intronic Deletions That Induce Biophysical Space Constraint for Spliceosome Assembly
American Journal of Human Genetics
Genetics
GRIK5 Genetically Regulated Expression Associated With Eye and Vascular Phenomes: Discovery Through Iteration Among Biobanks, Electronic Health Records, and Zebrafish
American Journal of Human Genetics
Genetics
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