Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

285 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.
Francis DI, Stark Z, Scheffer IE, Tan TY, Murali K, Gallacher L, Amor DJ, Goel H, Downie L, Stutterd CA, Krzesinski EI, Vasudevan A, Oertel R, Petrovic V, Boys A, Wei V, Burgess T, Dun K, Oliver KL, Baxter A, Hackett A, Ayres S, Lunke S, Kalitsis P, Wall M. Francis DI, et al. Among authors: goel h. Eur J Hum Genet. 2022 Nov 29. doi: 10.1038/s41431-022-01232-5. Online ahead of print. Eur J Hum Genet. 2022. PMID: 36446895
Demethylation of CADM1 and SOCS1 using capsaicin in cervical cancer cell line.
Sharan M, Jha M, Chandel R, Syeda S, Mathur R, Jha NK, Jha SK, Goel H, Shrivastava A, Chauhan S, Pamidimarri S, Jha AK. Sharan M, et al. Among authors: goel h. Naunyn Schmiedebergs Arch Pharmacol. 2022 Nov 28. doi: 10.1007/s00210-022-02340-1. Online ahead of print. Naunyn Schmiedebergs Arch Pharmacol. 2022. PMID: 36441265
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C, Rooryck C, Coutton C. Celse T, et al. Among authors: goel h. J Med Genet. 2022 Nov 11:jmedgenet-2022-108678. doi: 10.1136/jmg-2022-108678. Online ahead of print. J Med Genet. 2022. PMID: 36368868
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.
Morison LD, Meffert E, Stampfer M, Steiner-Wilke I, Vollmer B, Schulze K, Briggs T, Braden R, Vogel A, Thompson-Lake D, Patel C, Blair E, Goel H, Turner S, Moog U, Riess A, Liegeois F, Koolen DA, Amor DJ, Kleefstra T, Fisher SE, Zweier C, Morgan AT. Morison LD, et al. Among authors: goel h. J Med Genet. 2022 Nov 3:jmedgenet-2022-108734. doi: 10.1136/jmg-2022-108734. Online ahead of print. J Med Genet. 2022. PMID: 36328423 Free article.
Presence of entry receptors and viral markers suggest a low level of placental replication of hepatitis B virus in a proportion of pregnant women infected with chronic hepatitis B.
Garg G, Meenu MN, Patel K, Singh R, Gupta P, Purwar S, Mukhopadhyay S, Mishra N, Gupta S, Rawat SK, Goel H, Kumar R, Tanwar P, Singh J, Nema S, Biswas D, Trehanpati N, Singh AK, Vyas AK. Garg G, et al. Among authors: goel h. Sci Rep. 2022 Oct 22;12(1):17795. doi: 10.1038/s41598-022-22699-8. Sci Rep. 2022. PMID: 36272995 Free PMC article.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Sy MR, et al. Among authors: goel h. Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22. Am J Med Genet A. 2022. PMID: 36135330
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Kaspi A, Hildebrand MS, Jackson VE, Braden R, van Reyk O, Howell T, Debono S, Lauretta M, Morison L, Coleman MJ, Webster R, Coman D, Goel H, Wallis M, Dabscheck G, Downie L, Baker EK, Parry-Fielder B, Ballard K, Harrold E, Ziegenfusz S, Bennett MF, Robertson E, Wang L, Boys A, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, Morgan AT. Kaspi A, et al. Among authors: goel h. Mol Psychiatry. 2022 Sep 18. doi: 10.1038/s41380-022-01764-8. Online ahead of print. Mol Psychiatry. 2022. PMID: 36117209
285 results