Results 261 to 270 of about 97,306 (377)

COL4A1‐Related Leukoencephalopathy and Microangiopathy: A Case Series of Two Palestinian Siblings

open access: yesClinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT We report two Palestinian siblings with a pathogenic COL4A1 mutation, presenting with congenital cataracts, seizures, developmental delay, and antenatal intracerebral hemorrhages. Despite sharing the same genetic variant, they exhibited striking phenotypic variability.
Thkra Meshal   +7 more
wiley   +1 more source

Closing in on a Consensus in Identifying, Assessing and Diagnosing Children With Cerebral Visual Impairment

open access: yesActa Paediatrica, Volume 114, Issue 10, Page 2490-2498, October 2025.
ABSTRACT Aim Lack of global consensus regarding CVI makes assessment and research more difficult. Our aim is to describe current consensus and evident methods for how to identify, assess and diagnose CVI in children. Method Data‐based search on reviews and papers published 2014–2023. Result The seven reviews and 23 papers reviewed here jointly convey a
Barbro Lindquist, Christina Westerberg
wiley   +1 more source

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly

open access: yesClinical Genetics, Volume 108, Issue 4, Page 488-490, October 2025.
Summary of clinical and molecular findings in patients with biallelic variants in PDCD6IP.
Alfonso Manuel D'Alessio   +5 more
wiley   +1 more source

Genome-Wide Association Study and Rare Variant Association Studies of Strabismus in the <i>All of Us</i> Research Program. [PDF]

open access: yesOphthalmol Sci
Lee KAV   +7 more
europepmc   +1 more source

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