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Publications by Giuseppe Marangi
TRAPPC9-related Autosomal Recessive Intellectual Disability: Report of a New Mutation and Clinical Phenotype
European Journal of Human Genetics
Genetics
A Double Cryptic Chromosome Imbalance Is an Important Factor to Explain Phenotypic Variability in Wolf–Hirschhorn Syndrome
European Journal of Human Genetics
Genetics
Related publications
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
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
Insight to FBXO31 Novel Mutation p.Cys283Asn Causing Non‑Syndromic Autosomal Recessive Intellectual Disability Using Computational Methods
Clinical Proteomics and Bioinformatics
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
American Journal of Human Genetics
Genetics
Genetics, Clinical Phenotype, and Molecular Cell Biology of Autosomal Recessive Hypercholesterolemia
Arteriosclerosis, Thrombosis, and Vascular Biology
Cardiovascular Medicine
Cardiology
Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay
Genetics in Medicine
Medicine
Genetics
MED13L-related Intellectual Disability: Involvement of Missense Variants and Delineation of the Phenotype
Neurogenetics
Molecular Neuroscience
Genetics
Cellular
New Autosomal Recessive Faciodigitogenital Syndrome.
Journal of Medical Genetics
Genetics
An Intellectual Disability-Related Missense Mutation in Rac1 Prevents LTP Induction
Frontiers in Molecular Neuroscience
Molecular Neuroscience
Molecular Biology
Cellular