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

Year Number of Results
2005 79
2006 85
2007 79
2008 104
2009 111
2010 138
2011 150
2012 176
2013 147
2014 138
2015 147
2016 140
2017 182
2018 269
2019 297
2020 306
2021 211
2022 214
2023 156
2024 60

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2,476 results

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Page 1
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance.
Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L. Louise M Binderup M, et al. Eur J Med Genet. 2022 Aug;65(8):104538. doi: 10.1016/j.ejmg.2022.104538. Epub 2022 Jun 13. Eur J Med Genet. 2022. PMID: 35709961 Free article.
Cancer predisposition and germline CTNNA1 variants.
Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I, Hüneburg R, Aretz S, Colas C, Oliveira C. Lobo S, et al. Eur J Med Genet. 2021 Oct;64(10):104316. doi: 10.1016/j.ejmg.2021.104316. Epub 2021 Aug 21. Eur J Med Genet. 2021. PMID: 34425242
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.
Hamad A, Sherlaw-Sturrock CA, Glover K, Salmon R, Low K, Nair R, Sansbury FH, Rawlins L, Carmichael J, Horton R, Wedderburn S, Edgerley K, Irving R, Callaghan M, Mercer C, McGowan R, Robert L, Titheradge H, Naik S. Hamad A, et al. Eur J Med Genet. 2023 Apr;66(4):104714. doi: 10.1016/j.ejmg.2023.104714. Epub 2023 Jan 29. Eur J Med Genet. 2023. PMID: 36724812
Consensus recommendations on Epilepsy in Phelan-McDermid syndrome.
de Coo IFM, Jesse S, Le TL, Sala C; European Phelan-McDermid syndrome consortium. de Coo IFM, et al. Eur J Med Genet. 2023 Jun;66(6):104746. doi: 10.1016/j.ejmg.2023.104746. Epub 2023 Mar 24. Eur J Med Genet. 2023. PMID: 36967043 Free article. Review.
Corrigendum to "ATP7B variant spectrum in a French pediatric Wilson disease cohort" [Eur. J. Med. Genet. 64 (10) (October 2021) 104305].
Couchonnal E, Bouchard S, Sandahl TD, Pagan C, Lion-François L, Guillaud O, Habes D, Debray D, Lamireau T, Broué P, Fabre A, Vanlemmens C, Sobesky R, Gottrand F, Bridoux-Henno L, Belmalih A, Poujois A, Collet C, Francou B, Brunet AS, Lachaux A, Misrahi M, Bost M. Couchonnal E, et al. Eur J Med Genet. 2022 Mar;65(3):104453. doi: 10.1016/j.ejmg.2022.104453. Epub 2022 Feb 16. Eur J Med Genet. 2022. PMID: 35183456 No abstract available.
Corrigendum to "ATP7B variant spectrum in a French pediatric Wilson disease cohort" [Eur. J. Med. Genet. 64(10) (2021) 104305].
Couchonnal E, Bouchard S, Sandahl TD, Pagan C, Lion-François L, Guillaud O, Habes D, Debray D, Lamireau T, Broué P, Fabre A, Vanlemmens C, Sobesky R, Gottrand F, Bridoux-Henno L, Belmalih A, Poujois A, Brunet AS, Lachaux A, Bost M. Couchonnal E, et al. Eur J Med Genet. 2021 Nov;64(11):104341. doi: 10.1016/j.ejmg.2021.104341. Epub 2021 Sep 20. Eur J Med Genet. 2021. PMID: 34544667 Free article. No abstract available.
European collaboration on genetic tumour risk syndromes.
Vetti HH, Blanco I, Menko FH. Vetti HH, et al. Eur J Med Genet. 2023 Feb;66(2):104691. doi: 10.1016/j.ejmg.2022.104691. Epub 2022 Dec 26. Eur J Med Genet. 2023. PMID: 36581153 No abstract available.
Retinoblastoma: From genes to patient care.
Bouchoucha Y, Matet A, Berger A, Carcaboso AM, Gerrish A, Moll A, Jenkinson H, Ketteler P, Dorsman JC, Chantada G, Beck-Popovic M, Munier F, Aerts I, Doz F, Golmard L; European Retinoblastoma Group EuRbG. Bouchoucha Y, et al. Eur J Med Genet. 2023 Jan;66(1):104674. doi: 10.1016/j.ejmg.2022.104674. Epub 2022 Dec 5. Eur J Med Genet. 2023. PMID: 36470558 Review.
2,476 results