Results 181 to 190 of about 16,675 (221)

Genetic assessment of consecutively recruited dystonia cases from a single center. [PDF]

Neurogenetics
Atasu B, Simón-Sánchez J, Hauser AK, Heutink P, Gasser T, Lohmann E.   +5 more
europepmc   +1 more source

Assessment of cardiometabolic risk using single point insulin sensitivity estimator (SPISE) in pediatric Bardet-Biedl Syndrome: a pilot study. [PDF]

Orphanet J Rare Dis
Kandemir T, Yildiz M, Tercan U, Demirel OB, Yanik H, Karaman V, Aslanger AD, Kardelen AD, Poyrazoglu S, Darendeliler F, Toksoy G, Bas F.   +11 more
europepmc   +1 more source

Pathogenicity Classification of <i>TARDBP</i> Variants of Uncertain Significance: An Integrative Clinical Characterization and Functional Validation. [PDF]

Cells
Yang CS, Ma Y, Xie JL, Lou XY, Lv YT, Wu TX, Xu HF, Zou SM, Wu ZY, Li HF.   +9 more
europepmc   +1 more source

LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield. [PDF]

NEJM AI
Jaech A, Cheatham M, Shringarpure SS, Genetti CA, Pradhan P, Bagul A, Panch T, Rader B, Sewalk K, Distler R, Anderson KN, Stewart M, Lejfer S, Glahn DC, Goldstein RD, Wojcik M, Beggs AH, Brownstein JS, Brownstein CA.   +18 more
europepmc   +1 more source

Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPES. [PDF]

Hum Mutat
Matton C, Van De Velde J, De Bruyne M, Van De Sompele S, Hooghe S, Syryn H, Bauwens M, D Haene E, Dheedene A, Cools M, Komatsuzaki S, Preizner-Rzucidło E, Ross A, Armstrong C, Watkins W, Shelling A, Vincent AL, Cassiman C, Vermeer S, Bunyan DJ, Verdin H, De Baere E.   +21 more
europepmc   +1 more source

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines. [PDF]

Hum Mutat
Wang X, Zhang T, Qin Y, Zou Y, Luo H, Li H, Song J.   +6 more
europepmc   +1 more source

High Performance Full-Color Room-Temperature Phosphorescence Polymer Microspheres and Their Applications. [PDF]

Adv Mater
Zheng Y, Yang C, Liang X, Wu L.
europepmc   +1 more source

Diagnostic Yield of Genetic Disorders in Children with Hip Dysplasia Mimicking Bilateral Legg-Calvé-Perthes Disease. [PDF]

Diagnostics (Basel)
Tüysüz B, Güneş N, Yıldırım T, Karakaş H, Kasap B, Onur H, Uludağ Alkaya D, Şahin S, Orak MM, Zorer G, Kuruğoğlu S, Kasapçopur Ö.   +11 more
europepmc   +1 more source

Targeting PAR1 biased signaling with parmodulin reduces thromboinflammation and acute lung injury in sickle cell disease. [PDF]

Blood Adv
Ramadas N, Lowder K, Dutton J, Kazen RC, Sellers R, DeRousse JT, Dockendorff C, Sparkenbaugh EM.   +7 more
europepmc   +1 more source

Association Between PM_2.5 Components and Cerebral Hypoperfusion: A Mediation Role of Inflammatory Biomarkers. [PDF]

Eur J Neurol
Xu X, Lu X, Wang N, Zheng L, Guo J, Xu T, Guo Y, Li H, Yang Y, Yang L.   +9 more
europepmc   +1 more source