Results 221 to 230 of about 78,400 (304)

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, Volume 36, Issue 4, July 2026.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Prevalence of double heterozygotes of HbE and α-thal 1 (SEA) type in pregnancies and their partners that received antenatal care at Chiangrai Prachanukroh Hospital and reevaluated the cut-offs for differentiation. [PDF]

PLoS One
Leckngam P, Wamontree P, Chuaykarn T.
europepmc   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Overdominance for fitness: a genomic comparison between empirical and simulated data with Drosophila melanogaster. [PDF]

Genetics
González-Castellano I, Quesada H, Ramos-Onsins S, García-Dorado A, Caballero A.   +4 more
europepmc   +1 more source

Longitudinal Analysis of Sleep‐Disordered Breathing and Cognitive Outcomes in Children Living With Sickle Cell Anaemia

Clinical Otolaryngology, Volume 51, Issue 4, Page 520-528, July 2026.
ABSTRACT Objectives Sleep‐disordered breathing (SDB) and cognitive challenges are commonly observed in children living with sickle cell anaemia (SCA). This study investigated the longitudinal change in polysomnographic outcomes and the association with cognitive functions in children living with SCA.
Shifa Hamdule, Melanie Koelbel, Johanna C. Gavlak, Sati Sahota, Fenella J. Kirkham, Anna M. Hood   +5 more
wiley   +1 more source

Severe Hepatic Iron Overload and Cirrhosis in an HFE C282Y Heterozygote With Autoimmune Hepatitis: A Case of Genotype-Phenotype Discordance. [PDF]

Cureus
Furlan Silva Fabri R, De Melo Rodrigues RM, Prabakar D.   +2 more
europepmc   +1 more source

Leveraging Next‐Generation Tools for Genetic Assessment and Demographic Monitoring in Threatened and Elusive Humboldt Martens

Evolutionary Applications, Volume 19, Issue 7, July 2026.
ABSTRACT Conservation assessments of imperiled species require information on population structure, abundance, and connectivity which benefit from integrated demographic and genetic data. Humboldt martens (Martes caurina humboldtensis) are a federally threatened subspecies of Pacific marten (Martes caurina) whose conservation has been hindered by ...
Margaret A. Hallerud, Katie Moriarty, Kristine L. Pilgrim, Cate B. Quinn, Charlotte E. Eriksson, Michael K. Schwartz, Taal Levi   +6 more
wiley   +1 more source

Emerging from the shadows of congenital TTP. [PDF]

Blood Adv
Scully M, Cox C.
europepmc   +1 more source

Multidisciplinary Evaluation of a 10‐Year Restoration Program for Two Endangered Atlantic Salmon (Salmo salar) Populations

Evolutionary Applications, Volume 19, Issue 7, July 2026.
ABSTRACT Supportive breeding programs are widely implemented to counteract demographic collapse in threatened populations. Their long‐term success, however, depends on maintaining genetic diversity while ensuring that released individuals contribute effectively to wild populations.
Louarn Fauchet, Anne‐Laure Ferchaud, Jean‐Christophe Guay, Jean‐Sébastien Moore, Nicolas Derôme, Julien April, Louis Bernatchez   +6 more
wiley   +1 more source

Common and rare genetic variants explain distinct diagnostic variance in pediatric attention deficit hyperactivity disorder. [PDF]

Genet Med
Arnett AB, Koesterer R, Tovar PG, O'Connell M, Patel S, Zhang H, French CE, Rockowitz S, Flannick J, Doan R.   +9 more
europepmc   +1 more source