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

Year Number of Results
1980 1
1982 1
1984 1
1985 4
1986 5
1987 7
1988 6
1989 9
1990 1
1991 4
1992 7
1993 1
1994 1
1995 1
1996 3
1998 6
2000 2
2001 3
2002 2
2004 8
2005 5
2006 11
2007 5
2008 6
2009 7
2010 9
2011 7
2012 10
2013 14
2014 11
2015 14
2016 15
2017 6
2018 4
2019 7
2020 8
2021 7
2022 5
2023 8
2024 0

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203 results

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Page 1
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Granadillo JL, et al. Among authors: leheup b. J Med Genet. 2020 Oct;57(10):717-724. doi: 10.1136/jmedgenet-2019-106470. Epub 2020 Mar 9. J Med Genet. 2020. PMID: 32152250
MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Sloboda N, Renard E, Lambert L, Bonnet C, Leheup B, Todosi C, Schmitt E, Feillet F, Feigerlova E, Piton A, Journeau P, Klein M, Maillard L, Chelly J, Renaud M. Sloboda N, et al. Among authors: leheup b. Eur J Med Genet. 2023 Nov;66(11):104853. doi: 10.1016/j.ejmg.2023.104853. Epub 2023 Sep 25. Eur J Med Genet. 2023. PMID: 37758169
Pathophysiology of impaired ovarian function in galactosaemia.
Forges T, Monnier-Barbarino P, Leheup B, Jouvet P. Forges T, et al. Among authors: leheup b. Hum Reprod Update. 2006 Sep-Oct;12(5):573-84. doi: 10.1093/humupd/dml031. Epub 2006 Jul 11. Hum Reprod Update. 2006. PMID: 16835432 Review.
[Noonan syndrome: an enigma].
Limal JM, Bonnet D, Bouc YL, Leheup B, Lyonnet S. Limal JM, et al. Among authors: leheup b. Arch Pediatr. 1998 Jul;5(7):715-8. doi: 10.1016/s0929-693x(98)80049-3. Arch Pediatr. 1998. PMID: 9759268 Review. French. No abstract available.
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
Levaillant L, Bouhours-Nouet N, Illouz F, Amsellem Jager J, Bachelot A, Barat P, Baron S, Bensignor C, Brac De La Perriere A, Braik Djellas Y, Caillot M, Caldagues E, Campas MN, Caquard M, Cartault A, Cheignon J, Decrequy A, Delemer B, Dieckmann K, Donzeau A, Doye E, Fradin M, Gaudillière M, Gatelais F, Gorce M, Hazart I, Houcinat N, Houdon L, Ister-Salome M, Jozwiak L, Jeannoel P, Labarthe F, Lacombe D, Lambert AS, Lefevre C, Leheup B, Leroy C, Maisonneuve B, Marchand I, Marquant E, Muszlak M, Pantalone L, Pochelu S, Quelin C, Radet C, Renoult-Pierre P, Reynaud R, Rouleau S, Teinturier C, Thevenon J, Turlotte C, Valle A, Vierge M, Villanueva C, Ziegler A, Dieu X, Bouzamondo N, Rodien P, Prunier-Mirebeau D, Coutant R. Levaillant L, et al. Among authors: leheup b. J Clin Endocrinol Metab. 2023 Aug 18;108(9):e779-e788. doi: 10.1210/clinem/dgad119. J Clin Endocrinol Metab. 2023. PMID: 36884306 Free PMC article.
MAN1B1-CDG: Three new individuals and associated biochemical profiles.
Sakhi S, Cholet S, Wehbi S, Isidor B, Cogne B, Vuillaumier-Barrot S, Dupré T, Detleft T, Schmitt E, Leheup B, Bonnet C, Feillet F, Muti C, Fenaille F, Bruneel A. Sakhi S, et al. Among authors: leheup b. Mol Genet Metab Rep. 2021 Jun 2;28:100775. doi: 10.1016/j.ymgmr.2021.100775. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34141584 Free PMC article.
203 results