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EUROPEAN JOURNAL OF HUMAN GENETICS

Rivista

Codice:

E060666

ISSN:

1018-4813

Dati Generali

Dati Generali

Pubblicazioni (25)

Ordina Pubblicazioni:

ascendente
decrescente

A cellular test for Ehlers-Danlos syndromes diagnosis.

Contributo in Atti di convegno

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder

Articolo

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Articolo

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: A clinical, biochemical and molecular study

Articolo

Alteration of RAS pathway phosphorylation in Noonan syndrome patients carrying hypomorphic variants in two NS genes

Abstract

Analysis of the GRIK1 gene in patients with juvenile absence epilepsy

Abstract

Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

Articolo

Evidence on microRNAs mediated regulation of CDK5R1 gene expression.

Abstract

Evidence on microRNAs mediated regulation of CDK5R1 gene expression.

Abstract

From surnames to history of Y chromosomes: the Sardinian population as a case test

Articolo

Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment

Articolo

Genome-wide analysis of RNA editing levels in human blood identified interactions with mRNA processing genes and suggested correlations with biological and drug-related variables

Abstract

Guidelines for the appropriate use of genetic tests in infertile couples

Articolo

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

Articolo

Influence of serotonin receptor 2A His452Tyr polymorphism on brain temporal structures: a volumetric MR study.

Articolo

Linkage of autosomal dominant common variable immunodeficiency to chromosome 4 q.

Articolo

Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type

Contributo in Atti di convegno

Multiple QTL influence the serum Lp(a) concentration: a genome-wide linkage screen in the PROCARDIS study.

Articolo

Natural history of spinal involvement in Neurofibromatosis type 1: clues from "reverse follow-up"

Abstract

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Articolo

Phenotypic variability in rare NF2 patients carrying 22q12 microdeletions: exploring genetic and epigenetic mechanisms

Abstract

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases

Contributo in Atti di convegno

Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome?

Contributo in Atti di convegno

Role of interferon-gamma gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study

Articolo

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome

Articolo

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