Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Arnold Munnich
PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome
American Journal of Human Genetics
Genetics
Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos 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
A Hypermorphic IκBα Mutation Is Associated With Autosomal Dominant Anhidrotic Ectodermal Dysplasia and T Cell Immunodeficiency
Journal of Clinical Investigation
Medicine
Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Functional Disomy of the Xq28 Chromosome Region
European Journal of Human Genetics
Genetics
New Insight on FGFR3-Related Chondrodysplasias Molecular Physiopathology Revealed by Human Chondrocyte Gene Expression Profiling
PLoS ONE
Multidisciplinary
GeneRetriever: Software to Extract All Genes and Transcripts in Between Two Genetic Markers to Assist Design of Human Custom Microarrays
BioTechniques
Biochemistry
Biotechnology
Genetics
Molecular Biology
‹
1
2