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

1,068 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Nicolle R, Altin N, Siquier-Pernet K, Salignac S, Blanc P, Munnich A, Bole-Feysot C, Malan V, Caron B, Nitschké P, Desguerre I, Boddaert N, Rio M, Rausell A, Cantagrel V. Nicolle R, et al. Among authors: munnich a. BMC Med Genomics. 2023 Jun 21;16(1):143. doi: 10.1186/s12920-023-01582-z. BMC Med Genomics. 2023. PMID: 37344844 Free PMC article.
The CLDN5 gene at the blood-brain barrier in health and disease.
Hashimoto Y, Greene C, Munnich A, Campbell M. Hashimoto Y, et al. Among authors: munnich a. Fluids Barriers CNS. 2023 Mar 28;20(1):22. doi: 10.1186/s12987-023-00424-5. Fluids Barriers CNS. 2023. PMID: 36978081 Free PMC article. Review.
[Misnaming things].
Munnich A. Munnich A. Rev Prat. 2018 Jan;68(1):25-26. Rev Prat. 2018. PMID: 30840381 French. No abstract available.
[CRISPR/Cas9: a patch on the double helix ?].
Miccio A, Munnich A. Miccio A, et al. Among authors: munnich a. Rev Prat. 2020 Dec;70(10):1051-1052. Rev Prat. 2020. PMID: 33739640 French. No abstract available.
An Evaluation of Three Ways of Communicating Carrier Status Results to the Parents of Children in a Neonatal Sickle Cell Screening Programme.
Rémus C, Stanislas A, Bouazza N, Gauthereau V, Polak M, Blanche S, Niakaté A, Gluckman E, Tréluyer JM, Munnich A, Girot R, Cavazzana M. Rémus C, et al. Among authors: munnich a. Front Pediatr. 2020 Jun 19;8:300. doi: 10.3389/fped.2020.00300. eCollection 2020. Front Pediatr. 2020. PMID: 32637386 Free PMC article.
1,068 results