Results 131 to 140 of about 1,921,022 (384)
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing
Clinical pharmacology and therapy, 2013 Since September 2010, more than 10,000 patients have undergone preemptive, panel‐based pharmacogenomic testing through the Vanderbilt Pharmacogenomic Resource for Enhanced Decisions in Care and Treatment program.
S. V. Van Driest +7 more
semanticscholar +1 more source
Sires' MC1R Genotypes and Coat Color of the Offspring of the Chikso (Korean Brindle Cattle)
Journal of Animal Reproduction and Biotechnology, 2014 The objective of this study was to determine the effect of the MC1R genotypes of the Chikso (Korean brindle cattle) sires on the coat colors of their offspring.
Jae-Hee Park +7 more
doaj +1 more source
ESTIMATINON GENOTYPIC PHENOTYPIC VARIANCES FOR BARLEY GENOTYPES [PDF]
Mesopotamia Journal of Agriculture, 2013 Twenty four genotype of barley were used in addition to the local variety (black barley), according to random complete block design (R.C.B.D.) with three replications under the rainfed conditions of northern area of Iraq. The characters were studied.
openaire +3 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Splitting pairs and the number of clusters generated by random pair incompatibilities
, 2007 We consider a random fitness landscape on the space of haploid diallelic genotypes with n genetic loci, where each genotype is considered either inviable or viable depending on whether or not there are any incompatibilities among its allele pairs.
Pitman, Damien
core
Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan +8 more
wiley +1 more source
Revista Facultad Nacional de Agronomía Medellín, 2010 La Fusariosis de la espiga del trigo (FET) causada por el hongo Fusarium spp., se registra como una de las enfermedades más limitantes en el departamento de Nariño, Colombia, debido a la alta prevalencia y a la ausencia de técnicas de manejo eficientes ...
Martín Esteban Reyes Caicedo +2 more
doaj