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

416 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: wiedemann a. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
[Cyclic vomiting syndrome in children].
Brezin F, Wiedemann A, Feillet F. Brezin F, et al. Among authors: wiedemann a. Arch Pediatr. 2017 Nov;24(11):1129-1136. doi: 10.1016/j.arcped.2017.08.010. Epub 2017 Sep 22. Arch Pediatr. 2017. PMID: 28947248 French.
[Phenylketonuria, from diet to gene therapy].
Wiedemann A, Oussalah A, Jeannesson É, Guéant JL, Feillet F. Wiedemann A, et al. Med Sci (Paris). 2020 Aug-Sep;36(8-9):725-734. doi: 10.1051/medsci/2020127. Epub 2020 Aug 21. Med Sci (Paris). 2020. PMID: 32821049 Free article. Review. French.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart J, Cortes F, Hernando-Davalillo C, Montero R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S, Serrano M. Castiglioni C, et al. Among authors: wiedemann a. Hum Mutat. 2021 Feb;42(2):142-149. doi: 10.1002/humu.24151. Epub 2020 Dec 21. Hum Mutat. 2021. PMID: 33300232
[Newborn screening of phenylketonuria in France].
Wiedemann A, Jeannesson É, Oussalah A, Guéant JL, Guéant-Rodriguez RM, Feillet F. Wiedemann A, et al. Med Sci (Paris). 2021 May;37(5):468-473. doi: 10.1051/medsci/2021061. Epub 2021 May 18. Med Sci (Paris). 2021. PMID: 34003092 Free article. French.
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Ravel JM, Dreumont N, Mosca P, Smith DEC, Mendes MI, Wiedemann A, Coelho D, Schmitt E, Rivière JB, Tran Mau-Them F, Thevenon J, Kuentz P, Polivka M, Fuchs SA, Kok G, Thauvin-Robinet C, Guéant JL, Salomons GS, Faivre L, Feillet F. Ravel JM, et al. Among authors: wiedemann a. Hum Mutat. 2021 Dec;42(12):1576-1583. doi: 10.1002/humu.24285. Epub 2021 Oct 4. Hum Mutat. 2021. PMID: 34570399
416 results