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

7,634 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium; Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Kim A, et al. Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290. Brain. 2019. PMID: 30508070 Free article.
Recent advances in understanding inheritance of holoprosencephaly.
Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S, David V, Dupé V. Dubourg C, et al. Among authors: kim a. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):258-269. doi: 10.1002/ajmg.c.31619. Epub 2018 May 22. Am J Med Genet C Semin Med Genet. 2018. PMID: 29785796 Free article. Review.
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quélin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean SD, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora-Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V. Lavillaureix A, et al. Among authors: kim a. Genet Med. 2024 Jul;26(7):101126. doi: 10.1016/j.gim.2024.101126. Epub 2024 Mar 24. Genet Med. 2024. PMID: 38529886 Free article.
Microbiota assembly of specific pathogen-free neonatal mice.
Kennedy EA, Weagley JS, Kim AH, Antia A, DeVeaux AL, Baldridge MT. Kennedy EA, et al. Among authors: kim ah. bioRxiv [Preprint]. 2025 Jan 14:2025.01.14.633035. doi: 10.1101/2025.01.14.633035. bioRxiv. 2025. PMID: 39868118 Free PMC article. Preprint.
The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway.
Chen H, Ferguson CJ, Mitchell DC, Risch I, Titus A, Paulo JA, Hwang A, Beck LK, Lin TH, Gu W, Song SK, Yuede CM, Yano H, Griffith OL, Griffith M, Gygi SP, Bonni A, Kim AH. Chen H, et al. Among authors: kim ah. Cell Rep. 2025 Jan 23;44(2):115231. doi: 10.1016/j.celrep.2025.115231. Online ahead of print. Cell Rep. 2025. PMID: 39862434 Free article.
7,634 results