Results 191 to 200 of about 89,794 (315)

Comparison of primers for the pathogenicity factors <i>vvhA</i> and <i>rpoS</i> in <i>Vibrio vulnificus</i> environmental isolates from the Texas Coastal Bend region of the Gulf of Mexico. [PDF]

PeerJ
Sama V, Planas-Costas G, Buck GW, Peasari JR, Mott J, Kaiser KG, Ramirez GD, Kostoch B, Galvan A, Crow B, Vasquez E, Lee LS, Idowu MB.   +12 more
europepmc   +1 more source

WG II & WG III AR6 SPM Drafting Meeting and WG I Approval Session

WG II SPM Drafting Meeting 222021WG III SPM Drafting Meeting 222021WG I AR6 AcceptanceAdoptionApproval Session ...
openaire   +1 more source

GAA‐FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset Ataxia

Clinical Genetics, EarlyView.
GAA‐FGF14 ataxia is a frequent cause of both familial and sporadic cerebellar ataxia. If symptoms are consistent, targeted testing of the FGF14 locus should be considered as a first‐line approach, as the diagnostic yield is up to 50%. ABSTRACT GAA‐FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult‐onset ...
Eva‐Maria Kraus, Johannes Lenz, Pauline Ploettner, Patricia Duffek, Jost‐Julian Rumpf, Rami Abou Jamra, John Wiedenhoeft, Denny Popp   +7 more
wiley   +1 more source

Applicability and performance evaluation of the Shennong 1 chicken 40 K liquid chip in commercial chicken populations. [PDF]

Poult Sci
Cai Z, Wang S, Gao C, Xiao C, Ma Y, Liu Y, Wang K, Tian Y, Fan X, Gao H, Sun G, Kang X, Li W.   +12 more
europepmc   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, EarlyView.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

Implementing whole genome and transcriptome sequencing for cancer patients in routine healthcare: a comprehensive guide to costing. [PDF]

Br J Cancer
Altbürger C, Menzel M, Beck S, Lorenz K, Brygider ML, Ploeger C, Kahles A, Ball M, Kirchner M, Schnecko F, Jung A, Klauschen F, Grob T, Horst D, Hirsch D, Evert M, Schirmacher P, Budczies J, Kazdal D, Stenzinger A.   +19 more
europepmc   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, EarlyView.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source

Whole-Genome Sequencing for Antimicrobial Resistance Detection: A Simulation-Based Evaluation of WHO-Recommended Workflow in Pakistan. [PDF]

Pak J Med Sci
Alrasheed HA, Jan A, Rahim A, Waheed B, Akbar R.   +4 more
europepmc   +1 more source

Toward the genetic landscape of prostate cancer in India: insights from whole-exome and low-pass whole-genome sequencing of formalin-fixed paraffin-embedded tumor tissues. [PDF]

Front Syst Biol
Biswas S, Rajarathinam B, Khilwani B, Jalendra G, Sharma D, Vijavargiya M, Aradhya R, Ansari AS, Shukla N, Chaubey G, Lohiya NK, Suravajhala P, CA Prostate Consortium of India (CAPCI).   +12 more
europepmc   +1 more source

A novel JAK1 variant in chronic eosinophilic leukaemia with response to benralizumab

British Journal of Haematology, EarlyView.
Isabel C. Vallecillo‐Viejo, Michael D. Claiborne, Charles F. Anderson, Samantha Shafer, Alan Saven, Bryce A. Seifert, Morgan Similuk, Magdalena Walkiewicz, Irina Maric, Pia R. Crespo, Lori Broderick, Andrew A. White, Amy D. Klion   +12 more
wiley   +1 more source