Results 161 to 170 of about 8,590 (232)

A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy. [PDF]

open access: yesJACC Case Rep
Giannoni A   +10 more
europepmc   +1 more source

Chromosome-level genome assembly of bivalve mollusk, Xishishe Coelomactra antiquata. [PDF]

open access: yesSci Data
Wang S   +10 more
europepmc   +1 more source

Keratoderma-hypotrichosis-leukonychia Totalis Syndrome: A New Case Report of an Exceptional Entity. [PDF]

open access: yesActa Derm Venereol
Gutiérrez-Cerrajero C   +4 more
europepmc   +1 more source

Pancreatitis Preceding the Diagnosis of IBD in Children: A Retrospective Observational Study. [PDF]

open access: yesChildren (Basel)
D'Antonio L   +11 more
europepmc   +1 more source

Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome. [PDF]

open access: yesCase Rep Endocrinol
Calcaterra V   +9 more
europepmc   +1 more source

Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for <i>SLCO2A1</i> variants. [PDF]

open access: yesJBMR Plus
Arcanjo AM   +6 more
europepmc   +1 more source

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