Homozygote Concept

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50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis Journal Articles
CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency Journal Articles
DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients? Journal Articles
A Mild Phenotype of Severe β+ Thalassemia in a 16-Month-Old Boy Journal Articles
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease Journal Articles
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder Journal Articles
A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease Journal Articles
A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria Journal Articles
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy Journal Articles
A putative Lipid Transfer Protein involved in systemic resistance signaling in Arabidopsis Journal Articles
A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β⁰‐thalassaemia homozygotes Journal Articles
Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1 Journal Articles
Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population Journal Articles
An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2 -Catecholaminergic Polymorphic Ventricular Tachycardia Journal Articles
Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation Journal Articles
Association of Genetic Variant Linked to Hemochromatosis With Brain Magnetic Resonance Imaging Measures of Iron and Movement Disorders Journal Articles
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014) Journal Articles
Brain-derived neurotrophic factor variants are associated with childhood-onset mood disorder: confirmation in a Hungarian sample Journal Articles
Characterisation of a novel 49·3 kb ^Gγ(^Aγδβ)⁰‐thalassaemia deletion in seven families of Asian descent Journal Articles
Cholesteryl Ester Transfer Protein Mutations, Protein Activity and HDL-Cholesterol Concentration Journal Articles
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration Journal Articles
Correspondence Journal Articles
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay Journal Articles
Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan Journal Articles
Diagnosis of arylsulfatase A deficiency Journal Articles
Evaluation of the Disease Liability of CFTR Variants Journal Articles
Evidence for genetic incompatibilities associated with post-zygotic reproductive isolation in the human fungal pathogenCryptococcus neoformans Journal Articles
Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene Journal Articles
Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons. Journal Articles
Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome Journal Articles
Frequent heteroplasmy and recombination in the mitochondrial genomes of the basidiomycete mushroom Thelephora ganbajun Journal Articles
Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation Journal Articles
Genetic Susceptibility to West Nile Virus and Dengue Journal Articles
HbC disorders Journal Articles
Hemoglobin E diseases: Hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for α‐thalassemia Journal Articles
Hemoglobin barts hydrops fetalis syndrome. Journal Articles
Homozygosity for a haplotype in the HBG2‐OR51B4 region is exclusive to Arab‐Indian haplotype sickle cell anemia Journal Articles
Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption Journal Articles
Homozygous HB Sallanches [α104(G11)CYS→TYR] in a Pakistani Child with HB H Disease Journal Articles
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report Journal Articles
Identification of a novel β⁰ ‐ thalassaemia mutation in a greek family and subsequent prenatal diagnosis Journal Articles
Impact of ABCB1 and CYP2B6 Genetic Polymorphisms on Methadone Metabolism, Dose and Treatment Response in Patients with Opioid Addiction: A Systematic Review and Meta-Analysis Journal Articles
Impact of ACE2 gene polymorphism on antihypertensive efficacy of ACE inhibitors Journal Articles
Impact of Platelet Endothelial Aggregation Receptor-1 Genotypes on Platelet Reactivity and Early Cardiovascular Outcomes in Patients Undergoing Percutaneous Coronary Intervention and Treated With Aspirin and Clopidogrel Journal Articles
Infliximab‐Induced Psoriasis and Psoriasiform Skin Lesions in Pediatric Crohn Disease and a Potential Association With IL‐23 Receptor Polymorphisms Journal Articles
Influence of the high density lipoprotein receptor SR-BI on reproductive and cardiovascular pathophysiology Journal Articles
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2 Journal Articles
Life-Threatening Thrombosis in Mice With Targeted Arg48-to-Cys Mutation of the Heparin-Binding Domain of Antithrombin Journal Articles
Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis Journal Articles
Molecular genetic analysis of severe protein C deficiency. Journal Articles
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease Journal Articles
Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High‐Risk Desmocollin‐2 Carriers Journal Articles
Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in AdolescentShank3Null Mutant Mice Journal Articles
Renal venous thrombosis in a newborn with prothrombotic risk factors Journal Articles
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction Journal Articles
Severe thrombophilia in a factor V‐deficient patient homozygous for the Ala2086Asp mutation (FV Besançon) Journal Articles
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G?C genotype Journal Articles
Spectrum of β-Thalassemia Mutations in Egypt Journal Articles
Succinylcholine sensitivity in a nova scotia family Journal Articles
Survival, mutagenesis, and host cell reactivation in a Chinese hamster ovary cell ERCC1 knock-out mutant Journal Articles
TLR5 as an Anti-Inflammatory Target and Modifier Gene in Cystic Fibrosis Journal Articles
The First Report of a Homozygous Codons 9/10 (+T) β-Thalassemia Mutation in a Turkish Patient Journal Articles
The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature Journal Articles
The genetic basis of asymptomatic codon 8 frame‐shift (HBB:c25_26delAA) β⁰‐thalassaemia homozygotes Journal Articles
Thrombosis in inherited factor VII deficiency Journal Articles
Thymic stromal lymphopoietin (TSLP) secretion from human nasal epithelium is a function of TSLP genotype Journal Articles
Variability of clinical manifestation of factor VII-deficiency in homozygous and heterozygous subjects of the European F7 gene mutation A294V Journal Articles
[A patient with the homozygote form of familial hypercholesterolemia]. Journal Articles
α₁-Antitrypsin Deficiency Alleles in Cystic Fibrosis Lung Disease Journal Articles
β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation Journal Articles