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AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Rivista
Codice:
E190195
ISSN:
1552-4825
Dati Generali
Dati Generali
Pubblicazioni (10)
Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?
Articolo
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication
Articolo
Clinical characteristics of individuals with Down syndrome deceased with CoVID-19 in Italy—A case series
Articolo
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies
Articolo
Human PERIOD 3 gene influences SSRIs antidepressant activity in mood disorders.
Abstract
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males
Articolo
Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction
Articolo
Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation
Articolo
Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients.
Articolo
Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype
Articolo
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