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  1. Pubblicazioni

MOLECULAR CYTOGENETICS

Rivista
Codice:
E197638
ISSN:
1755-8166
  • Dati Generali

Dati Generali

Pubblicazioni (13)

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A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency
Articolo
Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene
Articolo
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy.
Articolo
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature
Articolo
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH
Articolo
MECP2 duplication phenotype in symptomatic females: Report of three further cases
Articolo
MECP2 duplication phenotype in symptomatic females: report of three cases.
Articolo
Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype
Articolo
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.
Articolo
Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.
Articolo
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion
Articolo
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations
Articolo
The major horse satellite DNA family is associated with centromere competence
Articolo
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