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Pubblicazioni
EUROPEAN JOURNAL OF HUMAN GENETICS
Rivista
Codice:
E060666
ISSN:
1018-4813
Dati Generali
Dati Generali
Pubblicazioni (17)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
Cytogenetic and molecular data in familial myelodysplastic syndrome associated with monosomy 7
Abstract
Cytogenetic and molecular data in familial myelodysplastic syndrome associated with monosomy 7
Abstract
Erytroleukaemia with tetrasomy 21 in a child without Down phenotype: evidence for a meiotic origin
Abstract
Estimating the prevalence of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI)
Poster
Exome sequencing points to pathogenic ATM variants in gastric cancer
Articolo
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders
Articolo
Interstitial deletion of 9q, including the genes for COL15A1 and PTCH
Abstract
Interstitial deletion of 9q,including the genes for COL15A1 and PTCH
Abstract
Involvement of APC gene in acinar cell carcinomas of the pancereas
Abstract
Microhomologiee and interspersed repeat elements at genomic breakpoints in chronic myeloid leukemia.
Articolo
Microhomologies and interspersed repeat elements at genomic breakpoints in chronic myeloid leukemia
Abstract
Persistence and transmission of recessive deafness and sign language: New insights from village sign languages
Articolo
Physical map and cosmid contig encompassing a new interstitial deletion of the X-linked lymphoproliferative syndrome region
Articolo
Reply to ten Kate et al
Articolo
Role of p53 gene in the pathogenesis of acinar cell carcinomas of the pancreas
Abstract
The Homozygosity Index (HI) approach reveals high allele frequency for Wilson Disease in the Sardinian population
Poster
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population
Articolo
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