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

Year Number of Results
1985 1
1986 1
1987 1
1988 2
1990 2
1991 3
1992 2
1993 1
1994 1
1995 2
1996 1
1999 1
2001 1
2002 1
2003 1
2007 1
2008 1
2009 2
2010 2
2012 2
2013 1
2014 1
2015 1
2016 3
2017 4
2018 1
2020 2
2021 1
2022 3
2023 2
2024 1

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43 results

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Page 1
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Billes A, Pujalte M, Jedraszak G, Amsallem D, Boudry-Labis E, Boute O, Bouquillon S, Brischoux-Boucher E, Callier P, Coutton C, Denizet AA, Dieterich K, Kuentz P, Lespinasse J, Mazel B, Morin G, Amram F, Pennamen P, Rio M, Piard J, Putoux A, Rama M, Roze-Guillaumey V, Schluth-Bolard C, Till M, Trouvé C, Vieville G, Rooryck C, Sanlaville D, Chatron N. Billes A, et al. Among authors: amsallem d. Clin Genet. 2024 Apr 1. doi: 10.1111/cge.14525. Online ahead of print. Clin Genet. 2024. PMID: 38561231
Type 3 Gaucher disease, diagnostic in adulthood.
Detollenaere C, Benghergbia M, Brassier A, de Villemeur TB, Amsallem D, Berger M, Stirnemann J, Belmatoug N, Rose C. Detollenaere C, et al. Among authors: amsallem d. Mol Genet Metab Rep. 2017 Jul 11;13:1-2. doi: 10.1016/j.ymgmr.2017.07.002. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 28736718 Free PMC article. No abstract available.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
DYRK1A mutations in two unrelated patients.
Ruaud L, Mignot C, Guët A, Ohl C, Nava C, Héron D, Keren B, Depienne C, Benoit V, Maystadt I, Lederer D, Amsallem D, Piard J. Ruaud L, et al. Among authors: amsallem d. Eur J Med Genet. 2015 Mar;58(3):168-74. doi: 10.1016/j.ejmg.2014.12.014. Epub 2015 Jan 30. Eur J Med Genet. 2015. PMID: 25641759
Empirical treatment of fever in neutropenic children: the role of the carbapenems. International Antimicrobial Therapy Cooperative Group of the European Organisation for Research and Treatment of Cancer and the Gimema Infection Program.
Cometta A, Viscoli C, Castagnola E, Massimo L, Giacchino R, Gibson B, Giacchino M, Balbo L, Engelhard D, Shapiro M, Amsallem D, Estavoyer JM, Ferster A, Glauser MP. Cometta A, et al. Among authors: amsallem d. Pediatr Infect Dis J. 1996 Aug;15(8):744-8. doi: 10.1097/00006454-199608000-00036. Pediatr Infect Dis J. 1996. PMID: 8858693 Review. No abstract available.
43 results