Results 141 to 150 of about 27,083 (210)
A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings. [PDF]
Zaeem M +6 more
europepmc +1 more source
Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series. [PDF]
Ghannam SIA +4 more
europepmc +1 more source
Consanguineous Marriage: Law and Public Health. [PDF]
Glover-Thomas N.
europepmc +1 more source
Delayed-onset hearing loss in first-grade students who previously passed the newborn hearing screening. [PDF]
Elbeltagy R +6 more
europepmc +1 more source
Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity. [PDF]
Toki M +7 more
europepmc +1 more source
Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]
Pachajoa H, Bonilla S, Nieva-Posso DA.
europepmc +1 more source

