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EUROPEAN JOURNAL OF MEDICAL GENETICS
Journal
Identifier:
E188690
ISSN:
1769-7212
Overview
Overview
Outputs (17)
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2.Mégarbané A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.
Academic Article
A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features
Academic Article
A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome
Academic Article
A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.
Academic Article
BAZ1B is a candidate gene responsible for hypothyroidism in Williams syndrome
Academic Article
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease
Academic Article
Comparative fish-mapping of the survival of motor neuron gene (SMN) in domestic bovids
Abstract
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study
Academic Article
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation
Academic Article
Long-term follow-up and novel genotype -phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2
Academic Article
MSH2 role in BRCA1-driMSH2role inBRCA1-driven tumorigenesis: A preliminary study inyeast and in human tumors fromBRCA1-VUS carriers
Academic Article
Prevalence of valproate syndrome in Europe from 2005 to 2014: A registry based multi-centre study
Academic Article
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome
Academic Article
Sex differences for major congenital heart defects in Down Syndrome: A population based study
Academic Article
Stark Z, Pangrazio A, McGillivray G, Fink AM. Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: A case report and review of the literature.
Academic Article
Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes
Academic Article
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19
Academic Article
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