Results 91 to 100 of about 78,165 (161)

Diagnosis of de novo fetal aceruloplasminemia via whole exome sequencing and fetal umbilical blood ceruloplasmin measurement. [PDF]

open access: yesOrphanet J Rare Dis
Jin P   +10 more
europepmc   +1 more source

Prenatal-Onset Recessive Titinopathies: Clinical Spectrum, Genotype-Phenotype Correlations, and Outcomes. [PDF]

open access: yesDiagnostics (Basel)
Zheng Y   +13 more
europepmc   +1 more source

Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts. [PDF]

open access: yesBMC Med Genomics
Tan X   +10 more
europepmc   +1 more source

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