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Publications by Sylviane Hanquinet
Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay
Genetics in Medicine
Medicine
Genetics
Human Gastrocnemius Medialis Pennation Angle as a Function of Age: From Newborn to the Elderly.
Journal of PHYSIOLOGICAL ANTHROPOLOGY and Applied Human Science
Related publications
Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
American Journal of Human Genetics
Genetics
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
American Journal of Human Genetics
Genetics
De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
GPR126 : A Novel Candidate Gene Implicated in Autosomal Recessive Intellectual Disability
American Journal of Medical Genetics, Part A
Genetics
Severe Intellectual Disability Associated With Recessive Defects in CNTNAP2 and NRXN1
Molecular Syndromology
Genetics
Identification of Candidate Gene FAM183A and Novel Pathogenic Variants in Known Genes: High Genetic Heterogeneity for Autosomal Recessive Intellectual Disability
PLoS ONE
Multidisciplinary
Microcephaly-Deafness-Intellectual Disability Syndrome
