Results 171 to 180 of about 10,779,854 (376)

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan   +20 more
wiley   +1 more source

Pregnancy Induced Autoimmune Diseases

open access: yes, 2021
Autoimmune diseases have been seen in approximately 8% of the population, and about 80% of these patients are women (Fairweather and Rose 2004). The interaction between autoimmunity and reproduction has two sides.
Yurtcu, Nazan
core  

Women with epilepsy: Evidence‐based counseling across the lifespan

open access: yesEpilepsia, EarlyView.
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn   +7 more
wiley   +1 more source

Diagnosing and warning of oral diseases and cervical-vaginal

open access: yes, 2011
Pouco se sabe hoje em dia sobre possíveis correlações entre doenças bucais e as doenças cérvico-vaginais. Pode-se afirmar, contudo, que existem doenças que atingem ambas as regiões do corpo humano. O presente estudo foi direcionado para o aprofundado das
Kuroczka, Wladimir Fabre   +1 more
core  

Transvaginal Approach for Repair of Recto vaginal Fistulae Complicating Crohnʼs Disease

open access: green, 1991
Joel J. Bauer   +4 more
openalex   +2 more sources

P595 Vaginal microbiota among adolescent and young adult women with pelvic inflammatory disease [PDF]

open access: bronze, 2019
Maria Trent   +3 more
openalex   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze   +19 more
wiley   +1 more source

Identification and characterisation of vaginal lactobacilli from South African women

open access: yes, 2013
Background: Bacterial vaginosis (BV), which is highly prevalent in the African population, is one of the most common vaginal syndromes affecting women in their reproductive age placing them at increased risk for sexually transmitted diseases including ...
de Bruyn, Guy,   +20 more
core   +1 more source

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