heterozygous - Robuta Search

https://biostar.usegalaxy.org/p/14311/index.html Annovar is missing heterozygous and homozygous information missing heterozygous homozygous information https://ctv.veeva.com/study/study-of-cavosonstat-n91115-in-cf-patients-who-are-heterozygous-for-f508del-cftr-and-a-gating-muta Study of Cavosonstat (N91115) in CF Patients Who Are Heterozygous for F508del-CFTR and a Gating... Cavosonstat (N91115) is being studied as a potential novel therapy for cystic fibrosis (CF), and this study assesses a target population of patients who are... https://research.uni-luebeck.de/en/publications/glucocorticoid-withdrawal-heterozygous-carriers-of-congenital-adr/ Glucocorticoid withdrawal - Heterozygous carriers of congenital adrenal hyperplasia at risk? -... adrenal hyperplasia glucocorticoid withdrawal heterozygous carriers https://eprints.whiterose.ac.uk/id/eprint/205978/ Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta - White Rose Research... https://www.archivesofmedicalscience.com/LDL-apheresis-in-a-woman-with-severe-heterozygous-familial-hypercholesterolemia-Late,53435,0,2.html LDL apheresis in a woman with severe heterozygous familial hypercholesterolemia. Late, but not too... https://scholars.mssm.edu/en/publications/aortic-atherosclerosis-in-pigs-with-heterozygous-von-willebrand-d-2/fingerprints/ Aortic atherosclerosis in pigs with heterozygous von Willebrand disease. Comparison with homozygous... von willebrand disease aortic atherosclerosis pigs https://e-cep.org/journal/view.php?number=20125553434 An, Kim, Kim, Yoo, and Lim: Compound heterozygous mutations of ACADS gene in newborn with short... https://research.luriechildrens.org/en/clinical-studies-search/vx-445teziva-expanded-access-program-for-cystic-fibrosis-cf-patients-heterozygous-for-f508del-mutation-and-a-minimal-function-mutation-fmf-genotypes2/ VX-445/TEZ/IVA Expanded Access Program for Cystic Fibrosis (CF) Patients Heterozygous for F508del... https://data.mendeley.com/datasets/65g5z7fpdc/4 Clinical data from a unique case of SARS-CoV-2 and Dengue virus coinfection with heterozygous Beta... We report a 30-year-old man with hemoglobinopathies coinfected with SARS-CoV2 and Dengue virus from Bangladesh. Dengue virus was detected by ELISA. Covid-19... https://www.droracle.ai/articles/1121052/what-is-the-clinical-significance-of-a-heterozygous-c677t What is the clinical significance of a heterozygous C677T MTHFR variant with no A1298C variant and... May 1, 2026 - Your heterozygous C677T MTHFR variant (with no A1298C mutation) has minimal clinical significance in isolation and does NOT require routine treatment unless ... https://pure.fujita-hu.ac.jp/en/publications/novel-compound-heterozygous-mutations-in-the-plec-gene-in-a-neona/ Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa... https://researchoutput.ncku.edu.tw/en/publications/compound-heterozygous-mutations-in-desmoplakin-cause-skin-fragili/ Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair - National... https://kidsfirstdrc.org/publication/heterozygous-rab3a-variants-cause-cerebellar-ataxia-by-a-partial-loss-of-function-mechanism/ Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism - Kids... Apr 23, 2026 - RAB3A encodes a small GTP-binding protein that is abundant in brain synaptic vesicles and crucial for the release of neurotransmitters and synaptic plasticity.... https://intalight.com/literature/10-2/ 010. Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3... https://research.uni-luebeck.de/de/publications/influence-of-l-dopa-on-subtle-motor-signs-in-heterozygous-parkin-/ Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers -... https://insight.jci.org/articles/view/158378/pdf JCI Insight - A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced... https://pubmed.ncbi.nlm.nih.gov/36425069/ Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous... Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal... https://scholars.aku.edu/en/publications/novel-de-novo-heterozygous-fgfr1-mutation-in-two-siblings-with-ha/ Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of... https://elifesciences.org/articles/75373/peer-reviews Peer review 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... peer review heterozygous https://elifesciences.org/reviewed-preprints/95887v2/figures Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function heterozygous variants affect https://scholars.duke.edu/publication/1507143 Scholars@Duke publication: Rare germline heterozygous missense variants in BRCA1-associated protein... 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://eprints.whiterose.ac.uk/id/eprint/96090/ Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis... https://researchfestival.nih.gov/2017/posters/abnormalities-neuronal-and-glial-composition-hippocampal-dentate-gyrus-gnb5 Abnormalities in neuronal and glial composition of hippocampal dentate gyrus in GNB5 heterozygous... https://pure.fujita-hu.ac.jp/en/publications/generation-of-heterozygous-fibrillin-1-mutant-cloned-pigs-from-ge/ Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts -... https://www.celemics.com/resources/publications/inherited-diseases/a-sensorineural-hearing-loss-harboring-novel-compound-heterozygous-variant-in-the-triobp-gene-a-case-report/ A sensorineural hearing loss harboring novel compound heterozygous variant in the TRIOBP gene: A... Sep 23, 2024 - Heliyon A sensorineural hearing loss harboring novel compound heterozygous variant in the TRIOBP gene: A case report Rhim JW, Kim DK, Han JY, Park J. A... sensorineural hearing loss