Results 201 to 210 of about 381,708 (311)

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Epilepsy in women of childbearing age: a focused review. [PDF]

Neurol Res Pract
Heckelmann J, Schmitz B, Weber YG, Mann C.   +3 more
europepmc   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Decoding the relationship between oxidative stress and antiseizure medications using network pharmacology and molecular docking. [PDF]

Sci Rep
Desai M, Singh SD, Nagamani S, Malik S, Singh A, Kukreti R, Kukreti S, Grewal GK.   +7 more
europepmc   +1 more source

Epilepsy. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1994
openaire   +2 more sources

Migraine with brainstem aura with abnormal EEG discharges easily misdiagnosed as epilepsy: a case series study. [PDF]

Ther Adv Neurol Disord
Liu X, Ran J, Tong Y, Yang W, Peng X.
europepmc   +1 more source

Epilepsy at the Millenium

IEE Seminar on Electrical Engineering and Epilepsy: A Successful Partnership in conjunction with the Epilepsy Research Foundation, 1998
openaire   +4 more sources

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

Special Issue: Molecular Research in Epilepsy and Epileptogenesis. [PDF]

Int J Mol Sci
Czuczwar SJ.
europepmc   +1 more source

Epilepsy. A Study of the Idiopathic Disease.

, 1907

openalex   +2 more sources