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

96 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
[Neonatal presentation of maple syrup urine disease].
Cardoen L, Schiff M, Lambron J, Rega A, Virlouvet AL, Biran V, Eleni Dit Trolli S, Elmaleh-Bergès M, Alison M. Cardoen L, et al. Among authors: rega a. Arch Pediatr. 2016 Dec;23(12):1291-1294. doi: 10.1016/j.arcped.2016.09.011. Epub 2016 Nov 2. Arch Pediatr. 2016. PMID: 27816400 French. No abstract available.
[Neonatal weight loss with neurological degeneration].
Cardoen L, Schiff M, Lambron J, Rega A, Virlouvet AL, Biran V, Eleni Dit Trolli S, Elmaleh-Bergès M, Alison M. Cardoen L, et al. Among authors: rega a. Arch Pediatr. 2016 Dec;23(12):1273-1275. doi: 10.1016/j.arcped.2016.09.012. Epub 2016 Nov 2. Arch Pediatr. 2016. PMID: 27816399 French. No abstract available.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L, Li X, Moutton S, Schrier Vergano SA, Cogné B, Saint-Martin A, Hurst ACE, Hu Y, Bodamer O, Thevenon J, Hung CY, Isidor B, Gerard B, Rega A, Nambot S, Lehalle D, Duffourd Y, Thauvin-Robinet C, Faivre L, Bézieau S, Dure LS, Helbling DC, Bick D, Xu C, Chen Q, Mancini GMS, Vitobello A, Wang QK. Liang L, et al. Among authors: rega a. Hum Mol Genet. 2019 Sep 1;28(17):2937-2951. doi: 10.1093/hmg/ddz117. Hum Mol Genet. 2019. PMID: 31152168 Free PMC article.
[An unexplained fever].
Tordjman M, Sommet J, Rega A, Benkerrou M, Berrebi D, Peuchmaur M. Tordjman M, et al. Among authors: rega a. Ann Pathol. 2017 Dec;37(6):495-498. doi: 10.1016/j.annpat.2017.10.008. Epub 2017 Nov 15. Ann Pathol. 2017. PMID: 29153389 French. No abstract available.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Malbos M, Wakeling E, Gautier T, Boespflug-Tanguy O, Busby L, Taylor-Miller T, Dudoignon B, Bokov P, Govin J, Grisval M, Rega A, Mourot De Rougemont MG, Aubriot-Lorton MH, Darmency V, Bensignor C, Houzel A, Huet F, Denommé-Pichon AS, Delanne J, Tran Mau-Them F, Bruel AL, Safraou H, Nambot S, Garde A, Philippe C, Duffourd Y, Vitobello A, Faivre L, Thauvin-Robinet C. Malbos M, et al. Among authors: rega a. Clin Genet. 2024 May;105(5):555-560. doi: 10.1111/cge.14485. Epub 2024 Jan 29. Clin Genet. 2024. PMID: 38287449
96 results