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

494 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.
Hennocq Q, Paternoster G, Collet C, Amiel J, Bongibault T, Bouygues T, Cormier-Daire V, Douillet M, Dunaway DJ, Jeelani NO, van de Lande LS, Lyonnet S, Ong J, Picard A, Rickart AJ, Rio M, Schievano S, Arnaud E, Garcelon N, Khonsari RH. Hennocq Q, et al. J Craniomaxillofac Surg. 2024 Oct;52(10):1172-1187. doi: 10.1016/j.jcms.2024.02.010. Epub 2024 Feb 5. J Craniomaxillofac Surg. 2024. PMID: 39187417 Free article.
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
Rhamati L, Marcolla A, Guerrot AM, Lerosey Y, Goldenberg A, Serey-Gaut M, Rio M, Cormier Daire V, Baujat G, Lyonnet S, Rubinato E, Jonard L, Rondeau S, Rouillon I, Couloignier V, Jacquemont ML, Dupin Deguine D, Moutton S, Vincent M, Isidor B, Ziegler A, Marie JP, Marlin S. Rhamati L, et al. Int J Pediatr Otorhinolaryngol. 2023 Aug;171:111606. doi: 10.1016/j.ijporl.2023.111606. Epub 2023 Jun 11. Int J Pediatr Otorhinolaryngol. 2023. PMID: 37336020
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, Picard A, Porntaveetus T, Rio M, Rouxel F, Shotelersuk V, Toutain A, Yauy K, Geneviève D, Khonsari RH, Garcelon N. Hennocq Q, et al. Sci Rep. 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. Sci Rep. 2024. PMID: 38282012 Free PMC article.
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.
Faviez C, Chen X, Garcelon N, Zaidan M, Billot K, Petzold F, Faour H, Douillet M, Rozet JM, Cormier-Daire V, Attié-Bitach T, Lyonnet S, Saunier S, Burgun A. Faviez C, et al. BMC Med Inform Decis Mak. 2024 May 24;24(1):134. doi: 10.1186/s12911-024-02538-8. BMC Med Inform Decis Mak. 2024. PMID: 38789985 Free PMC article.
Foetal achondroplasia: Prenatal diagnosis, outcome and perspectives.
Vallin AL, Grévent D, Bessières B, Salomon LJ, Legeai-Mallet L, Cormier-Daire V, Baujat G, Ville Y, Faure-Bardon V. Vallin AL, et al. Among authors: cormier daire v. J Gynecol Obstet Hum Reprod. 2024 Dec 5;54(2):102891. doi: 10.1016/j.jogoh.2024.102891. Online ahead of print. J Gynecol Obstet Hum Reprod. 2024. PMID: 39643117
494 results