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

• Mutation analysis of the MECP2 gene in patients with Rett syndrome. (Articolo in rivista) (Prodotto della ricerca)
• A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• X- LINKED MENTAL RETARDATION AND CHARACTERISTIC PHYSICAL FEATURES IN TWO BROTHERS WITH DUPLICATION Xp22>pter. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Progressive spastic paraplegia as a feature of tetrasomy 18p (Articolo in rivista) (Prodotto della ricerca)
• Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Prenatal diagnosis of a double trisomy 48, XXY, +13: Klinefelter and Patau syndromes (Articolo in rivista) (Prodotto della ricerca)
• RING CHROMOSOME 14 MOSAICISM: AN UNUSUAL CASE ASSOCIATED WITH DEVELOPMENTAL DELAY AND EPILEPSY, CHARACTERIZED BY GENOME ARRAY-CGH (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 --> pter and monosomy 3p26.3 --> pter in seven members (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• New case of contiguous gene syndrome at chromosome 8p11.2p12 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Giant breast tumors in a patient with Beckwith-Wiedemann syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• X-Linked Mental Retardation and Conjuntival Teleangectasias: Correction of the Previously Reported Karyotype. (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

• 1552-4833 (literal)

Preferred label

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

Publisher

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

Incoming links:

Rivista

• Prenatal diagnosis of a double trisomy 48, XXY, +13: Klinefelter and Patau syndromes (Articolo in rivista) (Prodotto della ricerca)
• New case of contiguous gene syndrome at chromosome 8p11.2p12 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 --> pter and monosomy 3p26.3 --> pter in seven members (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• RING CHROMOSOME 14 MOSAICISM: AN UNUSUAL CASE ASSOCIATED WITH DEVELOPMENTAL DELAY AND EPILEPSY, CHARACTERIZED BY GENOME ARRAY-CGH (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Progressive spastic paraplegia as a feature of tetrasomy 18p (Articolo in rivista) (Prodotto della ricerca)
• Mutation analysis of the MECP2 gene in patients with Rett syndrome. (Articolo in rivista) (Prodotto della ricerca)
• A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Giant breast tumors in a patient with Beckwith-Wiedemann syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• X- LINKED MENTAL RETARDATION AND CHARACTERISTIC PHYSICAL FEATURES IN TWO BROTHERS WITH DUPLICATION Xp22>pter. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• X-Linked Mental Retardation and Conjuntival Teleangectasias: Correction of the Previously Reported Karyotype. (Articolo in rivista) (Prodotto della ricerca)