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Year Number of Results
1980 1
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1989 9
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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
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206 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
[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.
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
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Thomas H, Alix T, Renard É, Renaud M, Wourms J, Zuily S, Leheup B, Geneviève D, Dreumont N, Schmitt E, Bronner M, Muller M, Divoux M, Wandzel M, Ravel JM, Dexheimer M, Becker A, Roth V, Willems M, Coubes C, Vieville G, Devillard F, Schaefer É, Baer S, Piton A, Gérard B, Vincent M, Nizon M, Cogné B, Ruaud L, Couque N, Putoux A, Edery P, Lesca G, Chatron N, Till M, Faivre L, Tran-Mau-Them F, Alessandri JL, Lebrun M, Quélin C, Odent S, Dubourg C, David V, Faoucher M, Mignot C, Keren B, Pisan É, Afenjar A, Julia S, Bieth É, Banneau G, Goldenberg A, Husson T, Campion D, Lecoquierre F, Nicolas G, Charbonnier C, De Saint Martin A, Naudion S, Degoutin M, Rondeau S, Michot C, Cormier-Daire V, Oussalah A, Pourié C, Lambert L, Bonnet C. Thomas H, et al. Among authors: leheup b. J Med Genet. 2024 Aug 29;61(9):878-885. doi: 10.1136/jmg-2024-110031. J Med Genet. 2024. PMID: 38937076
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.
Cross-Talk between miRNAs from the Dlk1-Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency.
Willekens J, Mosca P, Burt-Oberecken N, Laugeais E, Kaoma T, Bernardin F, Vallar L, Dimofski P, Renaud M, Lambert L, Leheup B, Guéant JL, Leininger-Muller B, Dreumont N. Willekens J, et al. Among authors: leheup b. Mol Nutr Food Res. 2023 Nov;67(21):e2300040. doi: 10.1002/mnfr.202300040. Epub 2023 Sep 6. Mol Nutr Food Res. 2023. PMID: 37672803 Free 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.
206 results