Results 171 to 180 of about 13,128 (181)

Small-nucleolar RNA host gene3 (SNHG3) and leukemia-associated non-coding IGF1R activator RNA 1 (LUNAR1) correlated with CRC patients' clinical features: a step-toward ncRNA-precision. [PDF]

Sci Rep
Emam O, Wasfey EF, Elnakib M, Yassin M, Halim SA, Hamdy NM.   +5 more
europepmc   +1 more source

Heparin CX-01 promotes adipogenesis and counteracts liposarcoma dedifferentiation

Lanzi C, Favini E, Bo LD, Tortoreto M, Percio S, Zuco V, Dagrada GP, Brich S, Collini P, Cecco L, Callegaro D, Sanfilippo R, Gronchi A, Zaffaroni N, Pasquali S, Cassinelli G.   +15 more
europepmc   +1 more source

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Ngeow J, Chiang J, Astiazaran-Symonds E, Balmaña J, Cass I, Kommoss FKF, Foulkes WD, James PA, Katcher A, Klugman S, Livinski AA, Mak JS, Voian N, Wick MJ, Tischkowitz M, Pal T, Stewart DR, Hanson H, ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net.   +18 more
europepmc   +1 more source

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft. [PDF]

Hum Mutat
Ranji P, Pairet E, Helaers R, Brouillard P, Bayet B, Gerdom A, Revencu N, Vikkula M.   +7 more
europepmc   +1 more source

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families. [PDF]

Genet Med
Merz LM, Kolvenbach CM, Wang C, Mertens ND, Seltzsam S, Mansour B, Zheng B, Schneider S, Schierbaum L, Hölzel S, Salmanullah D, Pantel D, Kalkar G, Connaughton DM, Mann N, Wu CW, Kause F, Nakayama M, Dai R, Schneider R, Buerger F, Nicolas-Frank C, Yousef K, Lemberg K, Saida K, Yu S, Elmubarak I, Franken GAC, Lomjansook K, Braun A, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Awad HS, Eid LA, El Desoky S, Shalaby MA, Kari JA, Ooda S, Fathy HM, Soliman NA, Nabhan M, Abdelrahman S, Hilger AC, Mane SM, Ferguson MA, Tasic V, Shril S, Hildebrandt F.   +53 more
europepmc   +1 more source

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.

Genet Med
Kaplanis J, Deen D, Sivakumar P, de Almeida Gomes M, Puzriakova A, Leong I, Savage K, Aldam G, Skelton J, Quinn P, Parrish A, Baple E, To M, Stone K, Bick D, Pichini A, Tuff-Lacey A, Scott R, Thomas E, Kasperaviciute D.   +19 more
europepmc   +1 more source

Faculty Opinions recommendation of Genenames.org: the HGNC resources in 2023.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2022
Christopher Southan
openalex   +2 more sources

The HUGO Gene Nomenclature Committee (HGNC)

Human Genetics, 2001
Sue Povey, Ruth C. Lovering, Elspeth A. Bruford, Matt W. Wright, Michael Lush, Hester Wain   +5 more
openalex   +3 more sources

HCOP: The HGNC comparison of orthology predictions search tool

Mammalian Genome, 2005
The HGNC Comparison of Orthology Predictions search tool, HCOP (http://www.gene.ucl.ac.uk/cgi-bin/nomenclature/hcop.pl ), enables users to compare predicted human and mouse orthologs for a specified gene, or set of genes, from either species according to the ortholog assertions from the Ensembl, HGNC, Homologene, Inparanoid, MGI and PhIGs databases ...
Matt W. Wright, T. A. Eyre, Michael Lush, Sue Povey, Elspeth A. Bruford   +4 more
openalex   +3 more sources

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ETLs for importing UniProtKB, HGNC, and Reactome into a bioinformatics graph database

2016
This work is the second of a series of technical report documenting the performed activities to build a big bioinformatics database. Details on the target platform, the general Extraction-Transform-Load (ETL) template, and the already imported bioinformatics database can be found in [1].
openaire   +1 more source