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

Year Number of Results
1972 3
1978 1
1979 3
1980 3
1981 3
1982 3
1983 5
1984 4
1985 5
1986 5
1987 2
1988 1
1989 2
1990 10
1991 5
1992 7
1993 11
1994 8
1995 6
1996 6
1997 8
1998 4
1999 8
2000 5
2001 5
2002 12
2003 6
2004 6
2005 4
2006 5
2007 3
2008 5
2009 10
2010 5
2011 1
2012 9
2013 10
2014 10
2015 14
2016 9
2017 7
2018 6
2019 6
2020 2
2021 8
2022 7
2023 0
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Search Results

243 results
Results by year
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Page 1
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Laquerriere A, et al. Among authors: melki j. J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820833 Free PMC article.
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network. Coutelier M, et al. Among authors: melki j. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.
Spinal muscular atrophies.
Viollet L, Melki J. Viollet L, et al. Among authors: melki j. Handb Clin Neurol. 2013;113:1395-411. doi: 10.1016/B978-0-444-59565-2.00010-1. Handb Clin Neurol. 2013. PMID: 23622363 Review.
Spinal muscular atrophy.
Melki J. Melki J. Curr Opin Neurol. 1997 Oct;10(5):381-5. doi: 10.1097/00019052-199710000-00005. Curr Opin Neurol. 1997. PMID: 9330883 Review.
Spinal muscular atrophy.
Cifuentes-Diaz C, Frugier T, Melki J. Cifuentes-Diaz C, et al. Among authors: melki j. Semin Pediatr Neurol. 2002 Jun;9(2):145-50. doi: 10.1053/spen.2002.33801. Semin Pediatr Neurol. 2002. PMID: 12138998 Review.
[Stretching and chylothorax].
Bottet B, Melki J, Levesque H, Baste JM, Roussel E, Peillon C. Bottet B, et al. Among authors: melki j. Rev Mal Respir. 2019 Jun;36(6):742-746. doi: 10.1016/j.rmr.2019.04.004. Epub 2019 Jun 21. Rev Mal Respir. 2019. PMID: 31235335 French.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: melki j. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.
DNA methylation changes in leukaemia.
Melki JR, Clark SJ. Melki JR, et al. Semin Cancer Biol. 2002 Oct;12(5):347-57. doi: 10.1016/s1044-579x(02)00055-x. Semin Cancer Biol. 2002. PMID: 12191634 Review.
Taenia solium cysticercosis in West Africa: status update.
Melki J, Koffi E, Boka M, Touré A, Soumahoro MK, Jambou R. Melki J, et al. Parasite. 2018;25:49. doi: 10.1051/parasite/2018048. Epub 2018 Sep 18. Parasite. 2018. PMID: 30230445 Free PMC article. Review.
243 results