American journal of medical genetics. Part A

Label

• American journal of medical genetics. Part A (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• How Valid Are the Rates of Down Syndrome Internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Gastroschisis and associated defects: an international study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia (Articolo in rivista) (Prodotto della ricerca)
• Segregation analysis of bronchial hyperresponsiveness in a general population in north Italy. (Articolo in rivista) (Prodotto della ricerca)
• R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Perrault syndrome: Evidence for progressive nervous system involvement (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Associated anomalies in multi-malformed infants with Cleft lip and Palate: An epidemiological study based on 6 million births in 23 EUROCAT Registries (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Another patient with 12q13 microduplication (Articolo in rivista) (Prodotto della ricerca)
• Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma (Articolo in rivista) (Prodotto della ricerca)
• Descriptive Epidemiology of Cornelia de Lange Syndrome in Europe (Articolo in rivista) (Prodotto della ricerca)
• Cystothionine beta-synthase c.84ins68 gene variant and non-syndromic cleft lip and palate (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A novel frameshift mutation of FOXC2gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study (Articolo in rivista) (Prodotto della ricerca)
• Validation of a New Hereditary Multiple Exostoses Classification Through Switching Neural Networks (Articolo in rivista) (Prodotto della ricerca)
• Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. (Articolo in rivista) (Prodotto della ricerca)
• Fraser Syndrome: Epidemiological Study in a European Population (Articolo in rivista) (Prodotto della ricerca)

Alternative label

• American journal of medical genetics. (literal)
• Am. j. med. genet., Part A (literal)

Language

• eng (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#issn

• 1552-4825 (literal)

Preferred label

• American journal of medical genetics. Part A (literal)

Publisher

• Wiley-Liss, Hoboken, N.J. : USA (literal)

Incoming links:

Rivista

• Segregation analysis of bronchial hyperresponsiveness in a general population in north Italy. (Articolo in rivista) (Prodotto della ricerca)
• Gastroschisis and associated defects: an international study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• How Valid Are the Rates of Down Syndrome Internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A novel frameshift mutation of FOXC2gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Descriptive Epidemiology of Cornelia de Lange Syndrome in Europe (Articolo in rivista) (Prodotto della ricerca)
• R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia (Articolo in rivista) (Prodotto della ricerca)
• Cystothionine beta-synthase c.84ins68 gene variant and non-syndromic cleft lip and palate (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Associated anomalies in multi-malformed infants with Cleft lip and Palate: An epidemiological study based on 6 million births in 23 EUROCAT Registries (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma (Articolo in rivista) (Prodotto della ricerca)
• Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. (Articolo in rivista) (Prodotto della ricerca)
• Validation of a New Hereditary Multiple Exostoses Classification Through Switching Neural Networks (Articolo in rivista) (Prodotto della ricerca)
• Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Perrault syndrome: Evidence for progressive nervous system involvement (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study (Articolo in rivista) (Prodotto della ricerca)
• Another patient with 12q13 microduplication (Articolo in rivista) (Prodotto della ricerca)
• Fraser Syndrome: Epidemiological Study in a European Population (Articolo in rivista) (Prodotto della ricerca)