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

128 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Delafontaine S, Iannuzzo A, Bigley TM, Mylemans B, Rana R, Baatsen P, Poli MC, Rymen D, Jansen K, Mekahli D, Casteels I, Cassiman C, Demaerel P, Lepelley A, Frémond ML, Schrijvers R, Bossuyt X, Vints K, Huybrechts W, Tacine R, Willekens K, Corveleyn A, Boeckx B, Baggio M, Ehlers L, Munck S, Lambrechts D, Voet A, Moens L, Bucciol G, Cooper MA, Davis CM, Delon J, Meyts I. Delafontaine S, et al. Among authors: mekahli d. J Clin Invest. 2024 Jan 4;134(4):e163604. doi: 10.1172/JCI163604. J Clin Invest. 2024. PMID: 38175705 Free PMC article.
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.
Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F. Gimpel C, et al. Among authors: mekahli d. Nat Rev Nephrol. 2019 Nov;15(11):713-726. doi: 10.1038/s41581-019-0155-2. Nat Rev Nephrol. 2019. PMID: 31118499 Free PMC article.
Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome.
Bucciol G, Cassiman D, Roskams T, Renard M, Hoffman I, Witters P, Schrijvers R, Schaballie H, Bosch B, Putti MC, Gheysens O, Knops N, Gewillig M, Mekahli D, Pirenne J, Meyts I. Bucciol G, et al. Among authors: mekahli d. Orphanet J Rare Dis. 2018 May 2;13(1):69. doi: 10.1186/s13023-018-0818-2. Orphanet J Rare Dis. 2018. PMID: 29716638 Free PMC article.
Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.
Bucciol G, Moens L, Payne K, Wollants E, Mekahli D, Levtchenko E, Vermeulen F, Tousseyn T, Gray P, Ma CS, Tangye SG, Van Ranst M, Brown JR, Breuer J, Meyts I. Bucciol G, et al. Among authors: mekahli d. J Clin Immunol. 2018 Oct;38(7):748-752. doi: 10.1007/s10875-018-0558-z. Epub 2018 Oct 11. J Clin Immunol. 2018. PMID: 30311057 No abstract available.
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.
Moens L, Gouwy M, Bosch B, Pastukhov O, Nieto-Patlàn A, Siler U, Bucciol G, Mekahli D, Vermeulen F, Desmet L, Maebe S, Flipts H, Corveleyn A, Moshous D, Philippet P, Tangye SG, Boisson B, Casanova JL, Florkin B, Struyf S, Reichenbach J, Bustamante J, Notarangelo LD, Meyts I. Moens L, et al. Among authors: mekahli d. J Clin Immunol. 2019 Apr;39(3):298-308. doi: 10.1007/s10875-019-00603-w. Epub 2019 Mar 5. J Clin Immunol. 2019. PMID: 30838481 Free PMC article.
128 results