Robuta

https://www.mendeley.com/catalogue/4a2df11e-24f6-3c98-97bd-02a8bda28433/ Compound Heterozygous DARS2 Mutat... preview & related info | Mendeley (2021) Pauly et al. Movement Disorders Clinical Practice compound heterozygousrelated infodars2mutatpreview https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2022.963813/full Frontiers | Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by... Background: Mutations in the STAMBP gene, which encodes a deubiquitinating isopeptidase called STAM-binding protein, are related to global developmental dela... compound heterozygous https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/publications/2023-publications/compound-heterozygous-variants-in-mapk8ip3-were-detected-in-severe-congenital-hypotonia-mimicking-lethal-spinal-muscular-atrophy Compound Heterozygous Variants in MAPK8IP3 Were Detected in Severe Congenital Hypotonia Mimicking... Publication with the title "Compound Heterozygous Variants in MAPK8IP3 Were Detected in Severe Congenital Hypotonia Mimicking Lethal Spinal Muscular Atrophy"... compound heterozygouscongenital hypotoniavariantsmapk8ip3 https://pmc.ncbi.nlm.nih.gov/articles/PMC8972287/ Identification of a novel compound heterozygous CYP4V2 variant in a patient with autosomal... Retinitis pigmentosa (RP) belongs to a family of retinal disorders that is characterized by the progressive degeneration of rod and cone photoreceptors. The... a novelcompound heterozygous https://pmc.ncbi.nlm.nih.gov/articles/PMC9911658/ Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset... Glutaric aciduria type II (GA II) is an autosomal recessive metabolic disorder of fatty acid, amino acid, and choline metabolism. The late-onset form of this... https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.771756/full Frontiers | Fetal Congenital Heart Disease Caused by Compound Heterozygous Mutations in the DNAH9... Background: Fetal congenital heart disease (CHD) is the most common congenital defect, with an incidence of 0.6-0.8%, accounting for 30-50% of infant congeni... congenital heart disease https://pmc.ncbi.nlm.nih.gov/articles/PMC8371864/ Compound heterozygous variants including a novel copy number variation in a child with atypical... Ataxia-telangiectasia is a rare autosomal recessive, neurodegenerative disorder caused by alterations in the ATM gene. The majority of ATM pathogenic variants... copy number variation https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.1011019/full Frontiers | Case report: A compound heterozygous mutations in ARSA associated with adult-onset... Metachromatic Leukodystrophy (MLD) is a rare autosomal, recessively inherited disease caused by the mutations in arylsulfatase A gene (ARSA). ARSA gene is lo... https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2019.00915/full Frontiers | Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case... PLA2G6 has been certified as a causative gene in patients with autosomal recessive early-onset Parkinson's disease (EOPD). We reported an EOPD case caused by... https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.951007/full Frontiers | Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a... Transcobalamin II (TC II) deficiency is a rare autosomal recessive disease characterized by megaloblastic anemia. It is caused by cellular vitamin B12 deplet... https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1498485/full Frontiers | Prenatal detection of novel compound heterozygous variants of the PLD1 gene in a fetus... BackgroundCongenital heart disease (CHD) is the most common birth defect and heart valve defects are the most common cardiac defect, accounting for over 25% ... https://pmc.ncbi.nlm.nih.gov/articles/PMC13065313/ Compound heterozygous variants of the DMRTC2 gene are associated with non-obstructive azoospermia... https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1191068/full Frontiers | Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2... Mutations of LAMA2 gene are associated with congenital muscular dystrophy (CMD). The LAMA2-related CMD mainly consists of two diseases, merosin deficient con... https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2023.1190162/full Frontiers | Identification of novel compound heterozygous variants in the DNAH1 gene of a Chinese... Most internal organs in humans and other vertebrates exhibit striking left-right asymmetry in position and structure. Variation of normal organ positioning r... https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2024.1381447/full Frontiers | Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a... Undiagnosed monogenic diseases represent a challenging group of human conditions highly suspicious to have a genetic origin, but with not conclusive evidence...