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

11,465 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.
Asadollahi R, Delvendahl I, Muff R, Tan G, Rodríguez DG, Turan S, Russo M, Oneda B, Joset P, Boonsawat P, Masood R, Mocera M, Ivanovski I, Baumer A, Bachmann-Gagescu R, Schlapbach R, Rehrauer H, Steindl K, Begemann A, Reis A, Winkler J, Winner B, Müller M, Rauch A. Asadollahi R, et al. Among authors: muller m. Hum Mol Genet. 2023 Jun 19;32(13):2192-2204. doi: 10.1093/hmg/ddad048. Hum Mol Genet. 2023. PMID: 37010102 Free PMC article.
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.
Reutter H, Boyadjiev SA, Gambhir L, Ebert AK, Rösch WH, Stein R, Schröder A, Boemers TM, Bartels E, Vogt H, Utsch B, Müller M, Detlefsen B, Zwink N, Rogenhofer S, Gobet R, Beckers GM, Bökenkamp A, Kajbafzadeh AM, Jaureguizar E, Draaken M, Lakshmanan Y, Gearhart JP, Ludwig M, Nöthen MM, Jenetzky E. Reutter H, et al. Among authors: muller m. J Pediatr. 2011 Nov;159(5):825-831.e1. doi: 10.1016/j.jpeds.2011.04.042. Epub 2011 Jun 16. J Pediatr. 2011. PMID: 21679965 Free PMC article.
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Bouhatous YM, Arnaud P, Jondeau G, Bonneau D, Rouleau F, Plessis G, Vincent A, Labombarda F, Maragnes P, Delanne J, Muller M, Coubes C, Bredy C, Gouya L, Odent S, Basquin A, Dupuis-Girod S, Barthelet M, Ginglinger E, Delobel B, Vaksmann G, Alessandri JL, Arsac LA, Thomas E, Julia S, Chesneau B, Dulac Y, Callewaert B, Loeys B, Vaerle M, Menke LA, Groenink M, Ades L, Ballesta-Martinez MJ, Shanske AL, Tinschert S, Gehle P, Thauvin-Robinet C, Eicher JC, Falcon-Eicher S, Boileau C, Binquet C, Hanna N, Faivre L. Bouhatous YM, et al. Among authors: muller m. J Med Genet. 2025 Jun 25:jmg-2024-110341. doi: 10.1136/jmg-2024-110341. Online ahead of print. J Med Genet. 2025. PMID: 40562530 Free article.
11,465 results
You have reached the last available page of results. Please see the User Guide for more information.