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

602 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Maduro V, Pusey BN, Cherukuri PF, Atkins P, du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, Links AE, Lehman A, Malicdan MC, Mason CE, Morimoto M, Mullikin JC, Sear A, Van Karnebeek C, Stankiewicz P, Gahl WA, Toro C, Boerkoel CF. Maduro V, et al. Among authors: lehman a. Orphanet J Rare Dis. 2016 May 14;11(1):62. doi: 10.1186/s13023-016-0439-6. Orphanet J Rare Dis. 2016. PMID: 27179618 Free PMC article.
The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia.
Elliott AM, du Souich C, Adam S, Dragojlovic N, van Karnebeek C, Nelson TN, Lehman A; CAUSES Study; Lynd LD, Friedman JM. Elliott AM, et al. Among authors: lehman a. Mol Genet Genomic Med. 2018 May 30;6(4):592-600. doi: 10.1002/mgg3.410. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29851296 Free PMC article.
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.
Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS. Nmezi B, et al. Among authors: lehman a. Neurol Genet. 2019 Jan 24;5(1):e305. doi: 10.1212/NXG.0000000000000305. eCollection 2019 Feb. Neurol Genet. 2019. PMID: 30842973 Free PMC article.
602 results