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

464 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.
Eom TY, Schmitt JE, Li Y, Davenport CM, Steinberg J, Bonnan A, Alam S, Ryu YS, Paul L, Hansen BS, Khairy K, Pelletier S, Pruett-Miller SM, Roalf DR, Gur RE, Emanuel BS, McDonald-McGinn DM, Smith JN, Li C, Christie JM, Northcott PA, Zakharenko SS. Eom TY, et al. Among authors: emanuel bs. Nat Commun. 2024 Dec 5;15(1):10510. doi: 10.1038/s41467-024-54837-3. Nat Commun. 2024. PMID: 39638997 Free PMC article.
Multiple paralogues and recombination mechanisms contribute to the high incidence of 22q11.2 Deletion Syndrome.
Vervoort L, Dierckxsens N, Sousa Santos M, Meynants S, Souche E, Cools R, Heung T, Devriendt K, Peeters H, McDonald-McGinn D, Swillen A, Breckpot J, Emanuel BS, Van Esch H, Bassett AS, Vermeesch JR. Vervoort L, et al. Among authors: emanuel bs. Genome Res. 2024 Nov 13:gr.279331.124. doi: 10.1101/gr.279331.124. Online ahead of print. Genome Res. 2024. PMID: 39537358
Hearing Loss in Children with 22q11.2 Deletion Syndrome.
Arganbright J, Crowley TB, Tracy M, Noel-MacDonnell J, Gaiser K, Yaktine L, Moore A, Hamm J, Morrow B, Song H, Giunta V, McGinn DE, Zackai EH, Emanuel B, Elden L, Narayanan S, Raje N, McDonald-McGinn DM. Arganbright J, et al. Among authors: emanuel b. Laryngoscope. 2024 Sep 21. doi: 10.1002/lary.31777. Online ahead of print. Laryngoscope. 2024. PMID: 39305214
Bone health in patients with inflammatory bowel disease.
Kreienbuehl AS, Rogler G, Emanuel B, Biedermann L, Meier C, Juillerat P, Restellini S, Hruz P, Vavricka SR, Aeberli D, Seibold F. Kreienbuehl AS, et al. Among authors: emanuel b. Swiss Med Wkly. 2024 Jun 10;154:3407. doi: 10.57187/s.3407. Swiss Med Wkly. 2024. PMID: 38875461 Free article. Review.
464 results