Skip to Main Content (Press Enter)
×
Home
Persone
Pubblicazioni
Strutture
Competenze
IT
EN
☰
UNI-FIND
|
UNI-FIND
cnr.it
IT
EN
×
Home
Persone
Pubblicazioni
Strutture
Competenze
☰
Pubblicazioni
EUROPEAN JOURNAL OF MEDICAL GENETICS
Rivista
Codice:
E188690
ISSN:
1769-7212
Dati Generali
Dati Generali
Pubblicazioni (17)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
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.
Articolo
A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features
Articolo
A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome
Articolo
A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.
Articolo
BAZ1B is a candidate gene responsible for hypothyroidism in Williams syndrome
Articolo
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease
Articolo
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
Articolo
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation
Articolo
Long-term follow-up and novel genotype -phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2
Articolo
MSH2 role in BRCA1-driMSH2role inBRCA1-driven tumorigenesis: A preliminary study inyeast and in human tumors fromBRCA1-VUS carriers
Articolo
Prevalence of valproate syndrome in Europe from 2005 to 2014: A registry based multi-centre study
Articolo
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome
Articolo
Sex differences for major congenital heart defects in Down Syndrome: A population based study
Articolo
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.
Articolo
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
Articolo
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19
Articolo
No Results Found
«
‹
{pageNumber}
›
»
{startItem} - {endItem} di {itemsNumber}
5 per pagina
10 per pagina
30 per pagina
vedi tutti
