Results 81 to 90 of about 33,870 (219)

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes. [PDF]

, 2020
Language development builds upon a complex network of interacting subservient systems. It therefore follows that variations in, and subclinical disruptions of, these systems may have secondary effects on emergent language.
1000 Genomes Project C., A Adato, A Boyd, A Gialluisi, A Rimmer, A Van Aarem, A Vouloumanos, AA Benasich, AL Barabasi, BJ Keats, BR Shrestha, C Kilkenny, C Witton, CA Anderson, CC Brewer, CF Norbury, CF Reisser, CS Lai, D Szklarczyk, DF Newbury, DF Newbury, DR Moore, DR Moore, DV Bishop, E Eising, E Lenassi, G Conti-Ramsden, G Dehaene-Lambertz, G Lunter, GR Abecasis, J Golding, J Heckman, J Hornickel, JA Boughman, JC Barrett, JC Taylor, JM Ellingford, K Walter, K Wang, K Watanabe, L Huang, M Kircher, M Lek, M Luciano, M Van Segbroeck, MC Liberman, MEK Niemi, MG Filipe, MJ Henry, MR Bowl, N Pearsall, P Cingolani, P Danecek, P Le Quesne Stabej, R Mora, R Nudel, RH Fitch, RH Fitch, RM Rosenfeld, S Colella, S Lee, S Purcell, S Richards, S Shultz, SW Threlkeld, WJ Kent, WJ Kimberling, X Liu, X Zhan, XS Chen, Y Zhou, Y-M Tien   +71 more
core   +5 more sources

Aminoacyl‐tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear‐encoded ARS genes, comprising both cytosolic (ARS1) and mitochondrial (ARS2) isoforms, have now been linked to human disease.
M. I. Mendes, D. E. Smith, V. Spek, A. M. Bosch, W. E. Corpeleijn, M. Engelen, S. A. Fuchs, A. Hadchouel, I. U. Heinemann, R. H. Houtkooper, E. M. M. Hoytema van Konijnenburg, S. Kemp, M. Langeveld, C. D. M. Karnebeek, A. Pop, V. M. Siu, N. I. Wolf, G. S. Salomons   +17 more
wiley   +1 more source

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service [PDF]

, 2016
In 2013, as part of our genetic investigation of patients with inherited retinal disease, we utilized multigene panel testing of 105 genes known to cause retinal disease in our patient cohorts. This test was performed in a UK National Health Service (NHS)
Ali, N, Chana, R, Khan, KN, Michaelides, M, Moore, AT, Webster, AR, Wright, G   +6 more
core   +1 more source

CAR‐T Cells: Current Status, Challenges, and Future Prospects

MedComm, Volume 7, Issue 5, May 2026.
This graphical abstract outlines the current status, challenges, and future prospects of CAR‐T cells. The biological basis of CAR‐T cell therapy is the elegant redirection of adaptive immunity. Its initial successes have exposed a landscape of multifaceted challenges.
Aya Sedky Adly, Guillaume Cartron, Afnan Sedky Adly, Jean‐Christophe Egea, Pierre‐Yves Collart Dutilleul, Mahmoud Sedky Adly, Martin Villalba   +6 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Andersen-Tawil Syndrome [PDF]

, 2006
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Smith, Andrew H, Fish, Frank A, Kannankeril, Prince J   +2 more
core   +1 more source

Biographical Discovery, Affirmation, and Disruption: Trans and Nonbinary Peoples' Experiences Negotiating Gender and Polycystic Ovary Syndrome

Sociology of Health &Illness, Volume 48, Issue 4, May 2026.
ABSTRACT Polycystic ovary syndrome (PCOS) is the most common endocrine irregularity in people who are assigned‐female‐at‐birth and are of reproductive age. PCOS causes infertility, irregular periods and hirsutism. Cis women with PCOS describe these symptoms as ‘masculinising,’ which makes them feel inauthentic as women.
Annie McGhee, Ashlyn Arthur
wiley   +1 more source

Imported SARS‐CoV‐2 Infections at N'djili International Airport in Kinshasa, Democratic Republic of Congo: An Epidemiological and Genomic Analysis

Influenza and Other Respiratory Viruses, Volume 20, Issue 5, May 2026.
ABSTRACT Background During the COVID‐19 pandemic, international border restrictions, along with traveler screening and quarantine, were implemented to limit virus spread. This study analyzes the epidemiological and genomic profiles of SARS‐CoV‐2 infections imported into Kinshasa (DRC) during the restrictions period in 2021.
Agar Mpwo Matalatala, Bive Bive Zono, Trésor Mampuela Kabeya, Héritier Kabenge Motemankele, Doudou Malekita Yobi, Elisabeth Simbu Pukuta, Placide Kingebeni Mbala, Georges Lelo Mvumbi   +7 more
wiley   +1 more source

A Case Report: Usher Syndrome and Psychosis Comorbidity [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2004
In literature, Usher Syndrome is indicated as the most frequent cause of combined blindness and deafness in adults and it is stated that these patients face psychiatric disorders quite frequently.
Latif Alpkan, Nezih Eradamlar, Neslihan Ergen, Neşe Üstün, Mustafa Karagöz, A. Umut Dalanay   +5 more
doaj  

Saudi Women's Experiences of Sexual and Relational Changes During the Menopause Transition

Journal of Advanced Nursing, Volume 82, Issue 5, Page 5082-5095, May 2026.
ABSTRACT Objectives This study aims to understand Saudi women's experiences of sexual and relational changes during the menopause transition. Design A qualitative, Interpretative Phenomenological Analysis study. Methods Sixteen Saudi women aged 45–57 who had experienced natural menopause transition were purposively selected and interviewed using semi ...
Samar Alotaibi, Sharron Hinchliff, Parveen Ali   +2 more
wiley   +1 more source