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EUROPEAN JOURNAL OF MEDICAL GENETICS
Rivista
Codice:
E188690
ISSN:
1769-7212
Dati Generali
Dati Generali
Pubblicazioni (8)
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling “Nijmegen breakage syndrome” phenotype
Articolo
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing
Articolo
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations
Articolo
Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype
Articolo
De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia
Articolo
Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome
Articolo
Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-Dietz syndrome
Articolo
Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype
Articolo
No Results Found
