Results 11 to 20 of about 596 (125)
Genetics in Medicine OpenPurpose: Genetic variation underlying rare diseases in Arab populations is poorly understood limiting effective carrier screening for recessive disorders, which are prevalent because of high consanguineous rates.
Ruchi Jain +20 more
doaj +2 more sources
Derby database for mapping secondary to primary HGNC gene symbols
, 2022 The datasets (hgnc_complete_set and withdrawn) used to create this ID mapping database were downloaded from HGNC ( HUGO Gene Nomenclature Committee at the European Bioinformatics Institute, website URL: https://www.genenames.org/) on 09/05/2022.
Abbassi-Daloii, Tooba
core +2 more sources
Naming 'junk': Human non-protein coding RNA (ncRNA) gene nomenclature
Human Genomics, 2011 Previously, the majority of the human genome was thought to be 'junk' DNA with no functional purpose. Over the past decade, the field of RNA research has rapidly expanded, with a concomitant increase in the number of non-protein coding RNA (ncRNA) genes ...
Wright Mathew W, Bruford Elspeth A
doaj +1 more source
Shorter HGNC approved ncRNA gene classes included in this systematic review.
, 2023 Shorter HGNC approved ncRNA gene classes included in this systematic review.
Jannah Holmes (16378819) +6 more
core +1 more source
Análisis de la producción central y la entrega de hidrógeno, aplicado al Circuito Patagónico Austral
Informes Científicos y Técnicos (Universidad Nacional de la Patagonia Austral), 2016 El departamento Deseado de la Provincia de Santa Cruz, Argentina, presenta la mayor potencialidad de producción de hidrógeno electrolítico del país, a partir de las tres fuentes de energías primarias sustentables: eólica, solar, biomásica.
Maximiliano Fernando Medina +5 more
doaj +1 more source
Genenames.org: the HGNC and PGNC resources in 2026 [PDF]
The HUGO Gene Nomenclature Committee (HGNC), based at the University of Cambridge, approves unique symbols and descriptive names for human genes. The HGNC database currently contains over 44,400 approved gene symbols, over 19,250 of which represent ...
core +6 more sources
Human Genomics, 2022 Intermediate filament (IntFil) genes arose during early metazoan evolution, to provide mechanical support for plasma membranes contacting/interacting with other cells and the extracellular matrix. Keratin genes comprise the largest subset of IntFil genes.
Minh Ho +6 more
doaj +1 more source
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
Molecular Genetics and Metabolism Reports, 2021 Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.).
Baiba Alksere +14 more
doaj +1 more source
The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations
Cells, 2022 The European Fragile X Network met in Wroclaw, Poland, November 2021, and agreed to work towards the eradication of the word “retardation” in regard to the naming of the fragile X gene (FRAXA) and protein (FMRP).
Jonathan Herring +2 more
doaj +1 more source
, 2018 Hugo Gene Nomenclature Consortium (HGNC) to ...
Daniel Domingo-Fernández +1 more
core +1 more source