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MOLECULAR GENETICS & GENOMIC MEDICINE
Rivista
Codice:
E222359
ISSN:
2324-9269
Dati Generali
Dati Generali
Pubblicazioni (8)
Genetic counseling during COVID-19 pandemic: Tuscany experience
Articolo
Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema
Articolo
JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene
Articolo
New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)
Articolo
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism
Articolo
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
Articolo
The CLN3 gene and protein: what we know
Articolo
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation
Articolo
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