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EUROPEAN JOURNAL OF MEDICAL GENETICS
Rivista
Codice:
E188690
ISSN:
1769-7212
Dati Generali
Dati Generali
Pubblicazioni (42)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
2q24-q31 deletion: report of a case and review of the literature.
Articolo
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
Articolo
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.
Articolo
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.
Articolo
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.
Articolo
A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect.
Articolo
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q
Articolo
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants
Articolo
A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines.
Articolo
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.
Articolo
A novel COLEC10 mutation in a child with 3MC syndrome
Articolo
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome
Articolo
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
Articolo
Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26- and MYH9-related diseases
Articolo
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.
Articolo
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.
Articolo
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
Articolo
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene
Articolo
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene
Articolo
Genotypes and phenotypes of Joubert syndrome and related disorders
Articolo
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature.
Articolo
Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.
Articolo
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
Articolo
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome
Articolo
MEF2C deletions and mutations versus duplications: a clinical comparison.
Articolo
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations.
Articolo
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH
Articolo
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.
Articolo
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases.
Articolo
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases.
Articolo
Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up
Articolo
Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up.
Articolo
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
Articolo
SCN2A and arrhythmia: A potential correlation? A case report and literature review
Articolo
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
Articolo
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.
Articolo
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.
Articolo
Subtelomeric trisomy 21q: a new benign chromosomal variant.
Articolo
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care
Articolo
Tubulin genes and malformations of cortical development
Recensione
Unexpected results in the constitution of small supernumerary marker chromosomes.
Articolo
Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1
Articolo
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