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Genetics of personalized medicine: cancer and rare diseases.
Cell Oncol (Dordr). 2018 Jun;41(3):335-341. doi: 10.1007/s13402-018-0379-3. Epub 2018 Apr 9.
Cell Oncol (Dordr). 2018.
PMID: 29633150
Patients' priorities and expectations on an EU registry for rare bone and mineral conditions.
Javaid MK, Mordenti M, Boarini M, Sangiorgi L; ERN BOND Working Group; Westerheim I, Alves I, Skarberg RT, Appelman-Dijkstra NM, Grasemann C.
Javaid MK, et al.
Orphanet J Rare Dis. 2021 Nov 3;16(1):463. doi: 10.1186/s13023-021-02069-9.
Orphanet J Rare Dis. 2021.
PMID: 34732217
Free PMC article.
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Optimising care and follow-up of adults with achondroplasia.
Fredwall S, Allum Y, AlSayed M, Alves I, Ben-Omran T, Boero S, Cormier-Daire V, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB, Wright M.
Fredwall S, et al.
Orphanet J Rare Dis. 2022 Aug 20;17(1):318. doi: 10.1186/s13023-022-02479-3.
Orphanet J Rare Dis. 2022.
PMID: 35987833
Free PMC article.
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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Cormier-Daire V, AlSayed M, Alves I, Bengoa J, Ben-Omran T, Boero S, Fredwall S, Garel C, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Sousa SB, Mohnike K.
Cormier-Daire V, et al.
Orphanet J Rare Dis. 2022 Jul 27;17(1):293. doi: 10.1186/s13023-022-02442-2.
Orphanet J Rare Dis. 2022.
PMID: 35897040
Free PMC article.
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International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO.
Savarirayan R, et al.
Nat Rev Endocrinol. 2022 Mar;18(3):173-189. doi: 10.1038/s41574-021-00595-x. Epub 2021 Nov 26.
Nat Rev Endocrinol. 2022.
PMID: 34837063
Free article.
Review.
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Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019.
Cheung MS, Alves I, Hagenäs L, Mohnike K.
Cheung MS, et al.
Bone. 2019 Oct;127:499-502. doi: 10.1016/j.bone.2019.07.020. Epub 2019 Jul 17.
Bone. 2019.
PMID: 31325656
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