Results 151 to 160 of about 16,675 (221)

Interpopulation Variation in Seed Germination in Three Plantago Species: Effects of Temperature, Osmotic Stress, and Salinity

New Zealand Journal of Botany, Volume 64, Issue 3, September 2026.
Plantago species are widespread in the Mediterranean and have potential applications in restoration of degraded or saline soils. This study examined germination responses of Plantago albicans, P. coronopus, and P. maritima from multiple Iberian populations under different temperature, osmotic stress, and salinity.
Sara Mira, Luciana Veiga‐Barbosa, Miguel Ángel Ibáñez, Félix Pérez‐García, María Elena González‐Benito   +4 more
wiley   +1 more source

Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B. [PDF]

NPJ Precis Oncol
Köhler A, Baumann AA, Lewis N, Richter A, Richter S, William D, Cruz-García A, Glimm H, Fröhling S, Le Duc D, Schröck E, Jahn A.   +11 more
europepmc   +1 more source

Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes. [PDF]

Biomolecules
Rabinovich Y, Vardizer Y, Pincovich S, Wolowelsky M, Kulyamzin S, Ehrenberg M, Zayit-Soudry S, Man Peles I, Leibu R, Goldenberg-Cohen N, Ben-Yosef T.   +10 more
europepmc   +1 more source

Identification of novel and known variants in <i>GAA, MYH6, NEXN, ATA3A, RHBDF1,</i> and <i>ACTA1</i> genes in coronary artery disease patients by Whole-exome sequencing. [PDF]

Front Cardiovasc Med
Mir R, Ullah MF, Javid J, Elfaki I, Altemani FH, Barnawi J, Algehainy NA, Jalal MM, Altayar MA, Yousif A, Hussain E, Tayeb FJ, AbuDuhier FM, Albalawi SO, Mustafa SK.   +14 more
europepmc   +1 more source

Clinical and genetic characterization of X-linked agammaglobulinemia in a Colombian cohort. [PDF]

World Allergy Organ J
Olaya Hernández M, Triviño Arias J, Arias Valderrama O, Cabrera Guarín V, Patiño JA, Pachajoa HM, Valencia DM, Franco AA, Castaño Jaramillo LM, Vélez Tirado N, Zea-Vera AF, Ortega-López MC, Olmos-Olmos C, Arévalo-Montenegro Y, Rincón-Arenas L, Franco JL, Orrego JC, Vásquez E, Obando-Gil C, Moribe I, Valderrama ML, Gómez-Parada C, Álvarez M, Arias AF, Pérez PM, Correa Jiménez O.   +25 more
europepmc   +1 more source

Rare Variants in Purinergic P2X Receptor Genes <i>(P2RX4, P2RX5, P2RX7)</i> in Individuals With Autism Spectrum Disorder: An Exploratory Study. [PDF]

Hum Mutat
Ünsel-Bolat G, Bolat H.
europepmc   +1 more source

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC‐Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I

Prenatal Diagnosis, Volume 46, Issue 10, Page 1648-1654, September 2026.
ABSTRACT Objective To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). Methods This retrospective case series includes five prenatal cases with MOPD1.
Alexandra Liebmann, Tanja Richter, Nevena Krstić, Markus Hoopmann, Karl Oliver Kagan, Lena‐Sophie Menig‐Benzig, Simone Olivieri, Olaf Riess, Andreas Dufke   +8 more
wiley   +1 more source

Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes. [PDF]

Front Genet
Huang Y, Huang L, Hu L, Tan L, Zhao P, Luo S, Yu T, Hu Y, He Y, Du H, He X.   +10 more
europepmc   +1 more source

A Rare Case of COPA Syndrome: Multisystem Relapse and Fatal Septic Complication

Respirology Case Reports, Volume 14, Issue 9, September 2026.
A 45‐year‐old man with a history of recurrent respiratory failure, arthritis and renal dysfunction was diagnosed with COPA syndrome through genetic testing after years of progressive interstitial lung disease and immune‐mediated manifestations. He initially responded to immunosuppressive therapy but relapsed after treatment discontinuation, developing ...
Flavia Castro Velasco Fernandes, Pedro Paulo Teixeira e Silva Torres, Elisângela de Paula Silveira‐Lacerda, Matheus Rabahi, Lucas Velasco Magalhaes Fernandes, Laís Rocha Lopes, Marise Amaral Rebouças Moreira, Marcelo Fouad Rabahi   +7 more
wiley   +1 more source

Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families. [PDF]

J Mol Med (Berl)
Oziębło D, Leja ML, Gan N, Bałdyga N, Toliat MR, Budde BS, Skarżyński H, Ołdak M.   +7 more
europepmc   +1 more source