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HUMAN MUTATION
Rivista
Codice:
E078695
ISSN:
1059-7794
Dati Generali
Dati Generali
Pubblicazioni (16)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A gene mutatioons reinforces genotype-phenotype correlation in metachromatic leukodystrophy
Articolo
A novel germline mutation, P48T, in the CDKN2A/p16 gene in a patient with pancreatic carcinoma.
Articolo
A novel missense mutation in the phenylalanine hydroxilase gene leading to complete loss of enzymatic activity
Articolo
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy
Articolo
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
Articolo
Denaturing HPLC Analysis of DNA Deletions and Insertions
Articolo
Direct or indirect association in a complex disease: The role of SLC22A4 and SLC22A5 functional variants in Crohn disease
Articolo
Frequency of RET mutations in long- and short-segment Hirschsprung disease
Articolo
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype studies
Articolo
How to Access Causality of TMPRSS6 Mutations
Articolo
Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism
Articolo
Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations
Articolo
Persistent mild hypothyroidism associated with novel sequenze variants of the DUOX2 gene in two siblings
Articolo
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Articolo
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor
Articolo
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2
Articolo
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