Skip to main page content
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

196 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
ERCP-Related Duodenal Perforation Presenting as Pneumoscrotum.
Khan MS, Jamal F, Khan Z, Tiwari A, Simo H, Sharma H. Khan MS, et al. Among authors: jamal f. Case Rep Gastroenterol. 2018 Jan 5;12(1):1-6. doi: 10.1159/000485557. eCollection 2018 Jan-Apr. Case Rep Gastroenterol. 2018. PMID: 29515338 Free PMC article.
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S; Undiagnosed Diseases Network; DDD Study, Bi W. Panneerselvam S, et al. Clin Genet. 2021 May 8. doi: 10.1111/cge.13979. Online ahead of print. Clin Genet. 2021. PMID: 33963760
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Marbach F, et al. Genet Med. 2021 Apr 8. doi: 10.1038/s41436-021-01152-7. Online ahead of print. Genet Med. 2021. PMID: 33833410
Insights Into the Role of CircRNAs: Biogenesis, Characterization, Functional, and Clinical Impact in Human Malignancies.
Nisar S, Bhat AA, Singh M, Karedath T, Rizwan A, Hashem S, Bagga P, Reddy R, Jamal F, Uddin S, Chand G, Bedognetti D, El-Rifai W, Frenneaux MP, Macha MA, Ahmed I, Haris M. Nisar S, et al. Among authors: jamal f. Front Cell Dev Biol. 2021 Feb 5;9:617281. doi: 10.3389/fcell.2021.617281. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33614648 Free PMC article. Review.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network, Sunyaev SR, Kohane IS. Kobren SN, et al. Genet Med. 2021 Feb 12. doi: 10.1038/s41436-020-01084-8. Online ahead of print. Genet Med. 2021. PMID: 33580225
196 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page