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

142 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Phenotypic and Imaging Spectrum Associated With WDR45.
Adang LA, Pizzino A, Malhotra A, Dubbs H, Williams C, Sherbini O, Anttonen AK, Lesca G, Linnankivi T, Laurencin C, Milh M, Perrine C, Schaaf CP, Poulat AL, Ville D, Hagelstrom T, Perry DL, Taft RJ, Goldstein A, Vossough A, Helbig I, Vanderver A. Adang LA, et al. Among authors: perrine c. Pediatr Neurol. 2020 Aug;109:56-62. doi: 10.1016/j.pediatrneurol.2020.03.005. Epub 2020 Mar 11. Pediatr Neurol. 2020. PMID: 32387008 Free PMC article.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S. Pizzo L, et al. Among authors: perrine c. Genet Med. 2019 Apr;21(4):816-825. doi: 10.1038/s41436-018-0266-3. Epub 2018 Sep 7. Genet Med. 2019. PMID: 30190612 Free PMC article.
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Bayat A, Liu Z, Luo S, Fenger CD, Højte AF, Isidor B, Cogne B, Larson A, Zanus C, Faletra F, Keren B, Musante L, Gourfinkel-An I, Perrine C, Demily C, Lesca G, Liao W, Ren D. Bayat A, et al. Among authors: perrine c. Genet Med. 2023 Sep;25(9):100894. doi: 10.1016/j.gim.2023.100894. Epub 2023 May 11. Genet Med. 2023. PMID: 37183800 Free article.
International Guidelines for the Treatment of Huntington's Disease.
Bachoud-Lévi AC, Ferreira J, Massart R, Youssov K, Rosser A, Busse M, Craufurd D, Reilmann R, De Michele G, Rae D, Squitieri F, Seppi K, Perrine C, Scherer-Gagou C, Audrey O, Verny C, Burgunder JM. Bachoud-Lévi AC, et al. Among authors: perrine c. Front Neurol. 2019 Jul 3;10:710. doi: 10.3389/fneur.2019.00710. eCollection 2019. Front Neurol. 2019. PMID: 31333565 Free PMC article.
Older Infant-Young Child "Formulas".
Fuchs GJ 3rd, Abrams SA, Amevor AA; COMMITTEE ON NUTRITION. Fuchs GJ 3rd, et al. Pediatrics. 2023 Nov 1;152(5):e2023064050. doi: 10.1542/peds.2023-064050. Pediatrics. 2023. PMID: 37860831 Review.
142 results