Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med. 2022 May;24(5):1096-1107. doi: 10.1016/j.gim.2021.12.016. Epub 2022 Jan 19.
Genet Med. 2022.
PMID: 35063350
Free article.
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.
Gauthier LW, Chatron N, Cabet S, Labalme A, Carneiro M, Poirot I, Delvert C, Gleizal A, Lesca G, Putoux A.
Gauthier LW, et al.
Eur J Med Genet. 2021 Nov;64(11):104320. doi: 10.1016/j.ejmg.2021.104320. Epub 2021 Aug 23.
Eur J Med Genet. 2021.
PMID: 34438093
Item in Clipboard
Long-term follow-up of severe autosomal recessive SP7-related bone disorder.
Gauthier LW, Fontanges E, Chapurlat R, Collet C, Rossi M.
Gauthier LW, et al.
Bone. 2024 Feb;179:116953. doi: 10.1016/j.bone.2023.116953. Epub 2023 Oct 31.
Bone. 2024.
PMID: 37918503
Item in Clipboard
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon MEH, van Jaarsveld RH, Oegema R, van Gassen KLI, Holwerda SJB, Barakat TS, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi MM, Striano P, Iacomino M, Chae JH, Jang S, Kim SY, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini ES, Radio FC, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad NK, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kortüm F, Kubisch C, Bähring R, Kindler S.
Kalm T, et al.
Am J Hum Genet. 2024 May 14:S0002-9297(24)00160-5. doi: 10.1016/j.ajhg.2024.04.019. Online ahead of print.
Am J Hum Genet. 2024.
PMID: 38772379
Free article.
Item in Clipboard
Cite
Cite