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AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Rivista
Codice:
E190195
ISSN:
1552-4825
Dati Generali
Dati Generali
Pubblicazioni (37)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A De Novo 0.63 Mb 6q25.1 Deletion Associated with Growth Failure, Congenital Heart Defect, Underdeveloped Cerebellar Vermis, Abnormal Cutaneous Elasticity and Joint Laxity
Articolo
A novel frameshift mutation of FOXC2gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus
Articolo
A predictive model for obstructive sleep apnea and Down syndrome
Articolo
Amniotic band syndrome and limb body wall complex in Europe 1980-2019
Articolo
Another patient with 12q13 microduplication
Articolo
Associated anomalies in multi-malformed infants with Cleft lip and Palate: An epidemiological study based on 6 million births in 23 EUROCAT Registries
Articolo
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia
Articolo
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex
Articolo
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
Articolo
Congenital clubfoot in Europe: A population-based study
Articolo
Cornelia de Lange syndrome and cancer: An open question
Articolo
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016
Articolo
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018
Articolo
Cystothionine beta-synthase c.84ins68 gene variant and non-syndromic cleft lip and palate
Articolo
Descriptive Epidemiology of Cornelia de Lange Syndrome in Europe
Articolo
Epidemiology of achondroplasia: A population-based study in Europe
Articolo
Fraser Syndrome: Epidemiological Study in a European Population
Articolo
Gastroschisis and associated defects: an international study
Articolo
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation
Articolo
How Valid Are the Rates of Down Syndrome Internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research
Articolo
Intracranial Gene Delivery of LV-NAGLU Vector Corrects Neuropathology in Murine MPS IIIB
Articolo
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB.
Articolo
Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study
Articolo
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.
Articolo
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma
Articolo
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome
Articolo
Perrault syndrome: Evidence for progressive nervous system involvement
Articolo
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG
Articolo
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
Articolo
Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: Familial scimitar anomaly or new syndrome?
Articolo
Segregation analysis of bronchial hyperresponsiveness in a general population in north Italy.
Articolo
Sex and congenital malformations: An international perspective
Articolo
Silver-Russell Syndrome Due to Paternal H19/IGF2 Hypomethylation in a Twin Girl Born After In Vitro Fertilization
Articolo
Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients.
Articolo
Trisomy 13 and 18--Prevalence and mortality--A multi-registry population based analysis
Articolo
Validation of a new multiple osteochondromas classification through Switching Neural Networks
Articolo
Validation of a predictive model for obstructive sleep apnea in people with Down syndrome
Articolo
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