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https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1125089/full Frontiers | Developmental changes in brain activity of heterozygous Scn1a knockout rats Introduction: Dravet syndrome (DS) is an infantile-onset developmental and epileptic encephalopathy characterized by an age-dependent evolution of drug-resis... brain activity frontiers developmental changes 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 heterozygous related info dars2 mutat preview https://www.jci.org/articles/view/114770/scanned-page/745 JCI - Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree... lipoprotein lipase deficiency https://pmc.ncbi.nlm.nih.gov/articles/PMC15879/ Mutator phenotypes of yeast strains heterozygous for mutations in the MSH2 gene - PMC Heterozygosity for germ-line mutations in the DNA mismatch repair gene MSH2 predisposes humans to cancer. Here we use a highly sensitive reporter to describe a... 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.wikidata.org/wiki/Q34062140 Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin... https://www.wikidata.org/wiki/Q70480400 Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two... scientific article published on 01 October 1993 phenotypic variation one of among familial 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/neuroscience/articles/10.3389/fnins.2025.1520550/full Frontiers | Heterozygous females from a rat model for creatine transporter deficiency reveal... Creatine (Cr) is an organic acid essential for recycling ATP, important in tissues with high energy demand such as muscle or brain. Cr is synthesized in a 2-... rat model 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/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.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/genetics/articles/10.3389/fgene.2024.1500167/full Frontiers | An investigation of a hemophilia A female with heterozygous intron 22 inversion and... ObjectivesHemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. Women are usually asymptomatic carriers, and rar... https://elifesciences.org/articles/35258 Somatic clones heterozygous for recessive disease alleles of BMPR1A exhibit unexpected phenotypes... Clonal heterozygosity for recessive disease alleles can elicit unexpected phenotypes in vivo, suggesting a new genetic concept relevant to understanding... https://www.wikidata.org/wiki/Q37385609 Single-cell isolations of diploid heterozygous Escherichia coli - Wikidata scientific article published on March 1951 single cell escherichia coli isolations diploid heterozygous https://www.muni.cz/vyzkum/publikace/769894 Presence of heterozygous ATM deletion may not be critical for the response of CLL cells to... https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1141488/full Frontiers | Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral... Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system and mainly characterized by enlarged capillary cavities withou... 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 heterozygous congenital hypotonia variants mapk8ip3 https://www.nice.org.uk/guidance/TA385/chapter/1-recommendations 1 Recommendations | Ezetimibe for treating primary heterozygous-familial and non-familial... Evidence-based recommendations on ezetimibe (Ezetrol) for treating primary (heterozygous-familial and non-familial) hypercholesterolaemia in adults 1 recommendations ezetimibe treating primary https://pmc.ncbi.nlm.nih.gov/articles/PMC11590780/ Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with... Familial Mediterranean fever (FMF) is a genetic disease leading to recurrent episodes of inflammation. Two pathogenic variants are required for classical... inflammatory biomarker analysis confirms reduced 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 novel compound heterozygous https://elifesciences.org/reviewed-preprints/95887v2 Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function heterozygous variants plcg1 affect https://www.sciencing.com/square-dihybrid-cross-heterozygous-plant-4599409/ How To Draw A Punnett Square For A Dihybrid Cross In A Heterozygous Plant Aug 30, 2022 - Reginald Punnett, an English geneticist, developed the Punnett square to determine the potential genetic outcomes from a cross. Merriam-Webster says its first... how to draw punnett square https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1096478/full Frontiers | Awareness and knowledge of heterozygous familial hypercholesterolemia among Serbian... Objective: Published reports describing awareness and knowledge of familial hypercholesterolemia (FH) among pediatricians are few and differ considerably acr... familial hypercholesterolemia frontiers awareness knowledge heterozygous https://www.deutsche-digitale-bibliothek.de/item/4SWXCOJVTK7QAIHTMMLXYWPDX4YHG5DH Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation -... asymptomatic carriers increased chromosomal radiosensitivity https://elifesciences.org/articles/75373v1 Oligogenic heterozygous inheritance of sperm abnormalities in mouse | eLife sperm abnormalities oligogenic heterozygous inheritance mouse https://www.wikidata.org/wiki/Q71995484 Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia... scientific article published on 01 September 1995 ldl receptor recurrent novel https://www.jci.org/articles/view/114770/scanned-page/736 JCI - Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree... lipoprotein lipase deficiency https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1101695/full Frontiers | Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with... Short stature (OMIM: 165800) is a common pediatric disorder. Any abnormality in the cartilage formation of the growth plate can cause short stature. Aggrecan... 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... https://elifesciences.org/reviewed-preprints/95887v2/figures Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function heterozygous variants plcg1 affect https://www.acc.org/Latest-in-Cardiology/Clinical-Trials/2020/08/28/16/09/HAUSER-RCT Evolocumab in Pediatric Heterozygous Familial Hypercholesterolemia Patients - American College of... Anthony A. Bavry, M.D., M.P.H., FACC familial hypercholesterolemia american college evolocumab pediatric heterozygous https://elifesciences.org/articles/75373/figures Figures and data in Oligogenic heterozygous inheritance of sperm abnormalities in mouse | eLife This first evidence of oligogenic inheritance in failed spermatogenesis strongly suggests that oligogenic heterozygosity could explain a significant proportion... https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2017.00251/full Frontiers | Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by... Introduction:Congenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have ...