MOLECULAR BASIS OF CHROMOSOME 22q11.2 HAPLOINSUFFICIENCY AND ITS RELATIONSHIP TO THE PHENOTYPIC OUTCOME
- 2 Anni 1998/2000
- 103.291€ Totale Fondi
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Pubblicazioni Scientifiche
- 1999-07-01 AMERICAN JOURNAL OF HUMAN GENETICS
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge syndrome -: Velocardiofacial syndrome without deletions within chromosome 22q11
- 1999-12-01 EUROPEAN JOURNAL OF HUMAN GENETICS
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome
- 2000-01-01 MOLECULAR MEDICINE TODAY
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome
- 1999-07-01 TRENDS IN GENETICS
UFD1L and CDC45L - a role in DiGeorge syndrome and related phenotypes?
