Results 71 to 80 of about 34,114 (259)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source
Los mapuches: cambio social y asimilación de una sociedad sin Estado
Espiral, 2012 El actual conflicto del pueblo mapuche con el estado de Chile comprende dimensiones complejas y estructurales. La imposición de un dominio territorial del Estado llevó a la condición de pobreza, reducción y transformación social de una sociedad.
Juan Pacheco Rivas
doaj
A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant
Animal Models and Experimental Medicine, EarlyView.Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund +7 more
wiley +1 more source
JTSL (Jurnal Tanah dan Sumberdaya Lahan), 2018 Mustard is a kind of vegetable that is favored by the public. Liquid organic fertilizer (LOF) mixture of leaves of gamal, chicken manure, and coconut water has a high nitrogen content, so they can increase the nitrogen needed by mustard planted on sandy ...
Monica Febrianna +2 more
doaj
Biology, Medicine & Natural Product ChemistryLow shallot productivity in Indonesia remains a major constraint for farmers, primarily due to pest and disease incidence. This study aimed to evaluate the effectiveness of Trichoderma-based liquid organic fertilizer (LOF) on crop productivity and pest ...
Wiyudatara Wiyudatara +3 more
doaj +1 more source
ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis
Arthritis &Rheumatology, EarlyView.Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen +21 more
wiley +1 more source
Annals of the Child Neurology Society, EarlyView.ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including seizure types and their treatments, in patients with GRIA2‐related ...
Sai Srihitha Dommata +9 more
wiley +1 more source
Clinical Pharmacology &Therapeutics, EarlyView.The Clinical Pharmacogenetics Implementation Consortium (CPIC) TPMT/NUDT15 Pharmacogene Curation Expert Panel (PCEP) conducted a comprehensive review of clinical, laboratory, and computational evidence to determine the clinical function assignments for TPMT and NUDT15 star alleles.
Bailey M. Tibben +10 more
wiley +1 more source
LOF calculation time of brute-force algorithm and grid-LOF algorithm for four datasets.
, 2016 LOF calculation time of brute-force algorithm and grid-LOF algorithm for four datasets.
Jihwan Lee (3342830) +1 more
core +1 more source
Clinical Pharmacology &Therapeutics, EarlyView.The extent of pharmacogenetic (PGx) drug dispensing among Dutch adults receiving medications for cardiovascular disease (CVD) is unknown. Using the University of Groningen IADB.nl pharmacy database, we performed a serial cross‐sectional study (2019–2023) to estimate the annual prevalence of PGx drug dispensing and annual rates of initiation.
Zhuolin Zhang +5 more
wiley +1 more source