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MOLECULAR GENETICS & GENOMIC MEDICINE
Rivista
Codice:
E222359
ISSN:
2324-9269
Dati Generali
Dati Generali
Pubblicazioni (5)
Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review
Articolo
Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene
Articolo
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa
Articolo
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype-guided genetic testing
Articolo
New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)
Articolo
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