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AMERICAN JOURNAL OF MEDICAL GENETICS (PRINT)
Rivista
Codice:
E007659
ISSN:
0148-7299
Dati Generali
Dati Generali
Pubblicazioni (21)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
Are Omphalocele and neural tube defects related congenital anomalies?: Data from 21 registries in Europe (EUROCAT)
Articolo
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Articolo
Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or new syndrome?
Articolo
Combined use of PRINS and FISH in the study of the dystrophin gene
Articolo
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.
Articolo
FISH analysis of interphase cells at Rett syndrome: The search of the targeting loci in the chromosome X
Abstract
Familial hypercholesterolemia study in Sardinia using 6 LDLR polymorphic markers based on PCR
Articolo
Family and molecular data for a fine analysis of age at onset in Huntington disease
Articolo
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2
Articolo
Genes and translocations involved in POF
Articolo
Human homologue of the murine Bare patches/Striated gene is not mutated in Incontinentia Pigmenti type 2
Articolo
Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression.
Articolo
Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.
Articolo
Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of fetal cells from maternal blood
Articolo
Novel X-Linked mental retardation syndrome with short stature maps to Xq24.
Articolo
OMPHALOCELE AND GASTROSCHISIS IN EUROPE - A SURVEY OF 3-MILLION BIRTHS 1980-1990
Articolo
Prevalence of beckwith-wiedemann syndrome in North West of Italy.
Articolo
SMC1A codon 496 mutations affect the cellular response to genotoxic treatments
Articolo
SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders
Articolo
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.
Articolo
Trisomy 8 mosaicism in a patient born to a mother with 47,XXX.
Articolo
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