Data di Pubblicazione:
2015
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
Alleles; Amino Acid Sequence; Child; Child, Preschool; DNA Breaks, Double-Stranded; DNA Ligases; DNA-Binding Proteins; Dwarfism; Dwarfism, Pituitary; Electrophoresis, Gel, Pulsed-Field; Exome; Female; Humans; Infant; Male; Microcephaly; Molecular Sequence Data; Phenotype; Protein Conformation; Severe Combined Immunodeficiency; Mutation; Genetics; Genetics (clinical)
Elenco autori:
Murray, Jennie E; Van Der Burg, Mirjam; Ijspeert, Hanna; Carroll, Paula; Wu, Qian; Ochi, Takashi; Leitch, Andrea; Miller, Edward S.; Kysela, Boris; Jawad, Alireza; Bottani, Armand; Brancati, Francesco; Cappa, Marco; Cormier Daire, Valerie; Deshpande, Charu; Faqeih, Eissa A.; Graham, Gail E.; Ranza, Emmanuelle; Blundell, Tom L.; Jackson, Andrew P.; Stewart, Grant S.; Bicknell, Louise S.
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