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

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

206 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome.
Gothelf D, Presburger G, Zohar AH, Burg M, Nahmani A, Frydman M, Shohat M, Inbar D, Aviram-Goldring A, Yeshaya J, Steinberg T, Finkelstein Y, Frisch A, Weizman A, Apter A. Gothelf D, et al. Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1;126B(1):99-105. doi: 10.1002/ajmg.b.20124. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15048657
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.
Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A, Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L. Birk E, et al. Among authors: gothelf d. Am J Hum Genet. 2010 Nov 12;87(5):694-700. doi: 10.1016/j.ajhg.2010.10.005. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035105 Free PMC article.
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L. Borck G, et al. Among authors: gothelf d. Mol Cell. 2012 Nov 30;48(4):641-6. doi: 10.1016/j.molcel.2012.09.005. Epub 2012 Oct 11. Mol Cell. 2012. PMID: 23063529 Free PMC article.
Genotype-phenotype correlation in 22q11.2 deletion syndrome.
Michaelovsky E, Frisch A, Carmel M, Patya M, Zarchi O, Green T, Basel-Vanagaite L, Weizman A, Gothelf D. Michaelovsky E, et al. Among authors: gothelf d. BMC Med Genet. 2012 Dec 17;13:122. doi: 10.1186/1471-2350-13-122. BMC Med Genet. 2012. PMID: 23245648 Free PMC article.
206 results