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Pubblicazioni
AMERICAN JOURNAL OF HUMAN GENETICS
Rivista
Codice:
E007642
ISSN:
0002-9297
Dati Generali
Dati Generali
Pubblicazioni (21)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie Tooth disease
Articolo
A Slc7a7 null mouse model of lysinuric protein intolerance.
Abstract
A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia
Articolo
A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility
Articolo
A locus for migraine without aura maps on chromosome 14q21.2- q22.3.
Articolo
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model
Articolo
Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases
Articolo
Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24
Articolo
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Articolo
Erratum: HLA-DPB1 and HLA class i confer risk of and protection from narcolepsy (American Journal of Human Genetics (2015) 96 (136-146))
Articolo
Expression atlas of the mouse orthologues of the Williams-Beuren syndrome critical region genes
Abstract
HLA-DPB1 and HLA class I confer risk of and protection from narcolepsy
Articolo
Human chromosome 21 gene expression atlas in the mouse.
Abstract
Identification of APC gene mutations in Italian APC patients by PCR-SSCP analysis
Articolo
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
Articolo
Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6.
Articolo
Large scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (FSHD)
Articolo
Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type
Articolo
Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
Articolo
The gene encoding human vimentin is located on the short arm of chromosome 10
Articolo
The topographical expression map of chromosome 21 genes.
Abstract
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