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MOLECULAR GENETICS & GENOMIC MEDICINE
Rivista
Codice:
E222359
ISSN:
2324-9269
Dati Generali
Dati Generali
Pubblicazioni (3)
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance
Articolo
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation
Articolo
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
Articolo
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