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 NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2007 2
2008 1
2015 1
2016 1
2022 1
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Page 1
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Revesz syndrome.
Riyaz A, Riyaz N, Jayakrishnan MP, Mohamed Shiras PT, Ajith Kumar VT, Ajith BS. Riyaz A, et al. Among authors: ajith kumar vt. Indian J Pediatr. 2007 Sep;74(9):862-3. doi: 10.1007/s12098-007-0155-2. Indian J Pediatr. 2007. PMID: 17901676
Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India.
Madathil Govindaraj G, Jain A, Edavazhippurath A, Bhoyar RC, Dhanasooraj D, Mishra A, Gupta V, Nair M, Shiny PM, Uppuluri R, Kumar A, Kashyap A, Ajith Kumar VT, Shankaran G, Senthivel V, Imran M, Kumar Divakar M, Sawant S, Dalvi A, Madkaikar M, Raj R, Sivasubbu S, Scaria V. Madathil Govindaraj G, et al. Among authors: ajith kumar vt. Hum Immunol. 2022 Apr;83(4):335-345. doi: 10.1016/j.humimm.2022.01.003. Epub 2022 Jan 21. Hum Immunol. 2022. PMID: 35074268