Results 201 to 210 of about 2,151,922 (308)

Recurrent sex chromosome turnover mediated by distinct ARR17 and PISTILLATA duplications in willows. [PDF]

open access: yesGenome Biol
Wang Y   +8 more
europepmc   +1 more source

Integrative Genomic and Functional Investigation of the Multi‐Layered Genetic Architecture Between Anorexia Nervosa and Bone Loss

open access: yesInternational Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Bone loss is a severe and often irreversible complication of anorexia nervosa (AN), yet the genetic mechanisms underlying this comorbidity remain underexplored. This study focuses on constructing a comprehensive genetic architecture between AN and estimated calcaneal bone mineral density (eBMD).
Tao Han   +14 more
wiley   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman   +7 more
wiley   +1 more source

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing. [PDF]

open access: yesBioinformatics
Barco-Armengol N   +7 more
europepmc   +1 more source

Invisible Labor: Gendered Responsibilities and Women's Diabetes Management

open access: yes
Chronic Diseases and Translational Medicine, EarlyView.
Kylie B. Lovett
wiley   +1 more source

Pediatric new‐onset seizure‐like events: Yield of diagnostic work‐up

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To assess the diagnostic yield of ancillary investigations in children presenting with new‐onset seizure‐like events (SLEs) at a tertiary first seizure clinic (FSC). Methods We conducted a retrospective cohort study including 1213 children evaluated for new‐onset SLEs at a tertiary FSC.
Geertruida Slinger   +8 more
wiley   +1 more source

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

open access: yesEpilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx   +192 more
wiley   +1 more source

Repetitive clustered low‐voltage fast activity on intracranial electroencephalogram in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy: A candidate electroencephalographic biomarker study

open access: yesEpilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE) is a recently recognized cause of drug‐resistant focal epilepsy. It is often magnetic resonance imaging‐negative or radiologically resembles focal cortical dysplasias, which makes recognition difficult and limits presurgical counseling ...
Vadym Gnatkovsky   +25 more
wiley   +1 more source

Home - About - Disclaimer - Privacy