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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 4
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197 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.
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.
Severe Phenotype in Patients with Large Deletions of NF1.
Pacot L, Vidaud D, Sabbagh A, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Morice-Picard F, Sigaudy S, Glazunova OO, Damaj L, Layet V, Quelin C, Gilbert-Dussardier B, Audic F, Dollfus H, Guerrot AM, Lespinasse J, Julia S, Vantyghem MC, Drouard M, Lackmy M, Leheup B, Alembik Y, Lemaire A, Nitschké P, Petit F, Dieux Coeslier A, Mutez E, Taieb A, Fradin M, Capri Y, Nasser H, Ruaud L, Dauriat B, Bourthoumieu S, Geneviève D, Audebert-Bellanger S, Nizon M, Stoeva R, Hickman G, Nicolas G, Mazereeuw-Hautier J, Jannic A, Ferkal S, Parfait B, Vidaud M, Members Of The Nf France Network, Wolkenstein P, Pasmant E. Pacot L, et al. Among authors: leheup b. Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963. Cancers (Basel). 2021. PMID: 34199217 Free PMC article.
Deciphering the natural history of SCA7 in children.
Bah MG, Rodriguez D, Cazeneuve C, Mochel F, Devos D, Suppiej A, Roubertie A, Meunier I, Gitiaux C, Curie A, Klapczynski F, Allani-Essid N, Carneiro M, Van Minkelen R, Kievit A, Fluss J, Leheup B, Ratbi L, Héron D, Gras D, Do Cao J, Pichard S, Strubi-Villaume I, Audo I, Lesca G, Charles P, Dubois F, Comet-Didierjean P, Capri Y, Barondiot C, Barathon M, Ewenczyk C, Durr A, Mignot C. Bah MG, et al. Among authors: leheup b. Eur J Neurol. 2020 Nov;27(11):2267-2276. doi: 10.1111/ene.14405. Epub 2020 Jul 23. Eur J Neurol. 2020. PMID: 32558018
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.
[Bourneville's tuberous sclerosis].
Pierson M, Leheup B. Pierson M, et al. Among authors: leheup b. J Genet Hum. 1988 Jun;36(3):181-99. J Genet Hum. 1988. PMID: 3045256 Review. French.
197 results