http://www.cnr.it/ontology/cnr/individuo/rivista/ID101672
European journal of medical genetics
- Label
- European journal of medical genetics (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
- Comparative fish-mapping of the survival of motor neuron gene (SMN) in domestic bovids (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Comparative FISH-mapping of sixty loci in sheep (Ovis aries, 2n=54) and river buffalo (Bubalus bubalis, 2n=50) chromosomes. (Comunicazione a convegno) (Prodotto della ricerca)
- A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome. (Articolo in rivista) (Prodotto della ricerca)
- 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 in rivista) (Prodotto della ricerca)
- 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Alternative label
- European journal of medical genetics. (literal)
- Eur. J. med. genet. (literal)
- Language
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#issn
- Preferred label
- European journal of medical genetics (literal)
- Publisher
- Elsevier Paris : FRA (literal)
Incoming links:
- Rivista
- A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Comparative fish-mapping of the survival of motor neuron gene (SMN) in domestic bovids (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Comparative FISH-mapping of sixty loci in sheep (Ovis aries, 2n=54) and river buffalo (Bubalus bubalis, 2n=50) chromosomes. (Comunicazione a convegno) (Prodotto della ricerca)
- 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 in rivista) (Prodotto della ricerca)
- 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)