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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 2
1991 2
1992 4
1994 3
1995 2
1996 2
1997 1
1998 6
1999 4
2000 5
2001 5
2002 1
2003 11
2004 6
2005 18
2006 16
2007 12
2008 12
2009 7
2010 7
2011 11
2012 6
2013 10
2014 11
2015 13
2016 18
2017 10
2018 9
2019 10
2020 8
2021 11
2022 13
2023 16
2024 12
2025 9

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249 results

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Page 1
Reply.
D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT. D'Antonio F, et al. Among authors: garel c. Ultrasound Obstet Gynecol. 2016 Dec;48(6):804-805. doi: 10.1002/uog.17314. Ultrasound Obstet Gynecol. 2016. PMID: 27933708 Free article. No abstract available.
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, Depienne C, De Clercq K, Douglas AGL, Fitzgerald MP, Foulds N, Garel C, Helbig I, Held K, Horn D, Janssen A, Kaindl AM, Narayanan V, Prager C, Rupin-Mas M, Afenjar A, Zhao S, Ramaekers VT, Ruggiero SM, Thomas S, Valence S, Van Maldergem L, Rohacs T, Rodriguez D, Dyment D, Voets T, Vriens J. Burglen L, et al. Among authors: garel c. Elife. 2023 Jan 17;12:e81032. doi: 10.7554/eLife.81032. Elife. 2023. PMID: 36648066 Free PMC article.
Spectrum of brain malformations in fetuses with mild tubulinopathy.
Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C. Hagege R, et al. Among authors: garel c. Ultrasound Obstet Gynecol. 2023 Jun;61(6):740-748. doi: 10.1002/uog.26140. Ultrasound Obstet Gynecol. 2023. PMID: 36484554 Free article.
Reply to Goergen S.
Chanclud J, Blondiaux E, Garel C. Chanclud J, et al. Among authors: garel c. Pediatr Radiol. 2024 Jun;54(7):1205. doi: 10.1007/s00247-024-05941-5. Epub 2024 May 18. Pediatr Radiol. 2024. PMID: 38761216 No abstract available.
First reports of fetal SMARCC1 related hydrocephalus.
Rive Le Gouard N, Nicolle R, Lefebvre M, Gelot A, Heide S, Gerasimenko A, Grigorescu R, Derive N, Jouannic JM, Garel C, Valence S, Quenum-Miraillet G, Chantot-Bastaraud S, Keren B, Heron D, Attie-Bitach T. Rive Le Gouard N, et al. Among authors: garel c. Eur J Med Genet. 2023 Aug;66(8):104797. doi: 10.1016/j.ejmg.2023.104797. Epub 2023 Jun 5. Eur J Med Genet. 2023. PMID: 37285932 Review.
Fetal imaging of posterior fossa malformations.
Nguyen T, O'Keane A, Vande Perre S, Chanclud J, le Pointe HD, Garel C, Blondiaux E. Nguyen T, et al. Among authors: garel c. Pediatr Radiol. 2025 Apr;55(4):747-764. doi: 10.1007/s00247-024-06075-4. Epub 2024 Nov 18. Pediatr Radiol. 2025. PMID: 39556195 Review.
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals.
Durizot M, Burglen L, Garel C, Blondiaux E, Riquet A, Floret V, Desportes V, Häänpaa M, Valenzuela MI, Pinto AM, Renieri A, Vanneste M, Devriendt K, de Waele L, Guilbaud L, Jouannic JM, Harion M, Billette de Villemeur T, Rodriguez D, Lacaze E, Milh M, Cloarec R, Afenjar A, Héron D, Mignot C, Valence S. Durizot M, et al. Among authors: garel c. Pediatr Neurol. 2025 Sep;170:49-57. doi: 10.1016/j.pediatrneurol.2025.06.003. Epub 2025 Jun 11. Pediatr Neurol. 2025. PMID: 40614697 Free article.
New insights into CC2D2A-related Joubert syndrome.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L. Harion M, et al. Among authors: garel c. J Med Genet. 2023 Jun;60(6):578-586. doi: 10.1136/jmg-2022-108754. Epub 2022 Nov 1. J Med Genet. 2023. PMID: 36319078
249 results