http://www.cnr.it/ontology/cnr/individuo/rivista/ID304281

Clinical genetics

Label

Clinical genetics (literal)

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

SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. (Articolo in rivista) (Prodotto della ricerca)
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease (Articolo in rivista) (Prodotto della ricerca)
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy? (Articolo in rivista) (Prodotto della ricerca)
Routine clinical application of the FRAXA pfu PCR assay:limits and utility. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate (Articolo in rivista) (Prodotto della ricerca)
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
DJ-1 is a Parkinson's disease susceptibility gene in southern Italy. (Articolo in rivista) (Prodotto della ricerca)
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove)syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Gene dosage influences the age at onset of SCA2 in a family from southern Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
DJ-1 is a Parkinson's disease susceptibility gene in southern Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Response to Simsek et al. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)

Alternative label

Clin. genet. (literal)
Clinical genetics. (literal)

Language

eng (literal)

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

0009-9163 (literal)

Preferred label

Clinical genetics (literal)

Publisher

Munksgaard, Copenhagen : GBR (literal)

Incoming links:

Rivista

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove)syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate (Articolo in rivista) (Prodotto della ricerca)
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy? (Articolo in rivista) (Prodotto della ricerca)
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
DJ-1 is a Parkinson's disease susceptibility gene in southern Italy. (Articolo in rivista) (Prodotto della ricerca)
SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. (Articolo in rivista) (Prodotto della ricerca)
Gene dosage influences the age at onset of SCA2 in a family from southern Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease (Articolo in rivista) (Prodotto della ricerca)
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Response to Simsek et al. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Routine clinical application of the FRAXA pfu PCR assay:limits and utility. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
DJ-1 is a Parkinson's disease susceptibility gene in southern Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)

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