Results 111 to 120 of about 11,896 (240)

Microcephaly [PDF]

open access: yes, 2009
This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of ...
Michels, Thomas C.   +2 more
core  

Relationship Between NDEL1 Anomaly, Lissencephaly, and Developmental Delay: A Case Report [PDF]

open access: green, 2023
Chun-yu CHEN   +5 more
openalex   +1 more source

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly [PDF]

open access: bronze, 2018
Nataliya Di Donato   +20 more
openalex   +1 more source

Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy. [PDF]

open access: yes, 2017
Ackroyd   +51 more
core   +2 more sources

Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly [PDF]

open access: hybrid, 2021
Hebah Qashqari   +8 more
openalex   +1 more source

Potential protective role of reactive astrocytes in the periventricular parenchyma in congenital hydrocephalus [PDF]

open access: yes, 2016
Background Cerebrospinal fluid accumulation in hydrocephalus produces an elevation of intraventricular pressure with pathological consequences on the periventricular brain parenchyma including ischemia, oedema, oxidative stress, and accumulation of ...
Alonso-Carrion, Francisco Jose   +9 more
core  

Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5 [PDF]

open access: bronze, 2015
Daniella Magen   +11 more
openalex   +1 more source

The Structure of the Coiled-Coil Domain of Ndel1 and the Basis of Its Interaction with Lis1, the Causal Protein of Miller-Dieker Lissencephaly [PDF]

open access: bronze, 2007
Urszula Derewenda   +10 more
openalex   +1 more source

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