Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Jeanne Amiel
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
SLC10A7 Mutations Cause a Skeletal Dysplasia With Amelogenesis Imperfecta Mediated by GAG Biosynthesis Defects
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Next Generation Phenotyping Using Narrative Reports in a Rare Disease Clinical Data Warehouse
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
A Syndromic Form of Pierre Robin Sequence Is Caused by 5q23 Deletions Encompassing FBN2 and PHAX
European Journal of Medical Genetics
Medicine
Genetics
PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome
American Journal of Human Genetics
Genetics
Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated With Autonomic Dysfunction
American Journal of Human Genetics
Genetics
Autonomic Function in Children With Congenital Central Hypoventilation Syndrome and Their Families
Chest
Cardiology
Critical Care
Cardiovascular Medicine
Intensive Care Medicine
Pulmonary
Respiratory Medicine
