Yahoo Search Búsqueda en la Web

Resultado de búsqueda

1. www.ncbi.nlm.nih.gov › omimHome - OMIM - NCBI - National Center for Biotechnology ...

   www.ncbi.nlm.nih.gov › omim

   Hace 2 días · OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.

   • Advanced Search

     The .gov means it's official. Federal government websites...

   • Gene

     Gene integrates information from a wide range of species. A...

2. www.omim.org › entry › 601009Entry - *601009 - TIGHT JUNCTION PROTEIN 1; TJP1 - OMIM

   www.omim.org › entry › 601009

   • En caché

   Hace 5 días · Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.

3. gene.vision › knowledge-base › familial-exudative-vFamilial Exudative Vitreoretinopathy (FEVR): for professionals

   gene.vision › knowledge-base › familial-exudative-v

   • En caché

   Hace 1 día · CTNNB1 (OMIM: 116806) Function: Encodes β-catenin, a key component of the Wnt signalling pathway involved in cell adhesion and gene transcription regulation. JAG1 (OMIM: 601920) Function: Encodes Jagged-1, a ligand for Notch receptors, playing a critical role in cell fate decisions. RCBTB1 (OMIM: 607347)

4. www.cell.com › hgg-advances › fulltextHuman Genetics and Genomics Advances: Human Genetics and ...

   www.cell.com › hgg-advances › fulltext

   Hace 1 día · We collected 960 DNVs in 853 genes from published studies and curated these genes, based on the DNVs’ deleteriousness, into 230 and 23 genes related to cleft lip with or without palate (CL/P) and cleft palate only (CPO), respectively. For comparison, we curated 178 CL/P and 277 CPO genes from OMIM. In CL/P, the pathways enriched in DNV and ...

5. www.medrxiv.org › content › 10Intersex/Differences of Sex Development (I/DSD) Traits ...

   www.medrxiv.org › content › 10

   • En caché

   Hace 1 día · These terms were cross-referenced with the OMIM database to pinpoint diseases annotated with these HPO terms. Out of 8,181 phenotypically detailed diseases listed in OMIM and included in the HPO database, we discovered that 1,264 (15.5%) have associations with I/DSD-related HPO terms, signifying their presence in I/DSD traits.

6. www.coursehero.com › file › 234514577ALBA.GONZALEZ.CHOFRE PEC2.pdf - Course Hero

   www.coursehero.com › file › 234514577

   Hace 1 día · Ficheros: mim2gene.txt: Un archivo delimitado por tabuladores que suministra las relaciones entre la identificación de los genes en la base de datos OMIM y otros identificadores de genes (MIM Gene IDs, NCBI Gene IDs, Ensembl Gene IDs, and HGNC Approved Gene Symbols.) mimTitles.txt: Un archivo delimitado por tabuladores de números y fenotipos MIM.

7. www.reddit.com › r › PMDDVision blur - a symptom? : r/PMDD - Reddit

   www.reddit.com › r › PMDD

   • En caché

   Does anyone else experience vision issues during their Bad times? I definitely have noticed something up with my eyes when I am in the Bad. My vision…