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AMERICAN JOURNAL OF MEDICAL GENETICS
Rivista
Codice:
E007659
ISSN:
0148-7299
Dati Generali
Dati Generali
Pubblicazioni (28)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb.
Articolo
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.
Articolo
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations
Articolo
Asymmetric Marfan Syndrome
Articolo
Case of Myhre syndrome with autism and peculiar skin histological findings.
Articolo
Cerebro-reno digital syndrome in two sibs
Articolo
Chromosome abnormalities in Dyskeratosis congenita.
Articolo
Constitutional trisomy 8 mosaicism: mechanism of origin, phenotype variability, and risk of malignancies
Articolo
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities.
Articolo
Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta.
Articolo
Del 22q11.2 and hemophagocytic lymphohistiocytosis: a non random association
Articolo
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichtyosis due to steroid sulfatase deficiency.
Articolo
DiGeorge anomaly associated with 10p deletion.
Articolo
Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia
Articolo
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the èèq13.3 deletion syndrome
Articolo
Dup(3)(p2----pter) in two families, including one infant with cyclopia.
Articolo
Family-based association study of 5-HTTLPR,TPH,MAO-A and DRD4 polymorphism in mood disorders.
Articolo
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.
Articolo
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.
Articolo
Is G6PD A-deficiency associated with recurrent stillbirths in the Gambia?
Articolo
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.
Articolo
Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(x)(pter-->q24::q21.32-->qter) and random X inactivation
Articolo
Nonreciprocal and jumping translocations of 15q1-->qter in Prader-Willi syndrome
Articolo
Possible role of overglycosylation in the type I collagen triple helical domain in the molecular pathogenesis of osteogenesis imperfecta.
Articolo
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome
Articolo
The role of Yp in sex determination: new evidence from X/Y translocations.
Articolo
Towards improved clinical charaterization of Leber congenital amaurosis. Neurological and systemic findings
Articolo
Unbalanced cryptic t(1q:12q) translocation in an apparently X-linked syndrome with pachygyria, mental retardation and hypogenitalism
Articolo
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