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

Year Number of Results
2006 2
2008 4
2009 2
2013 4
2014 2
2015 3
2016 7
2017 6
2018 7
2019 2
2020 4
2021 5
2022 4
2023 4
2024 1

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52 results

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Page 1
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Alabdulrazzaq F, Alanzi T, Al-Balool HH, Gardham A, Wakeling E, Leitch HG, AlSayed M, Abdulrahim M, Aladwani A, Romito A, Kampe K, Ferdinandusse S, Aboelanine AH, Abdullah A, Alwadani A, Bastaki L, Vaz FM, Bertoli-Avella AM, Marafi D. Alabdulrazzaq F, et al. Mol Genet Genomic Med. 2023 Dec;11(12):e2256. doi: 10.1002/mgg3.2256. Epub 2023 Aug 18. Mol Genet Genomic Med. 2023. PMID: 37592902 Free PMC article.
Real-world evidence in achondroplasia: considerations for a standardized data set.
Alanay Y, Mohnike K, Nilsson O, Alves I, AlSayed M, Appelman-Dijkstra NM, Baujat G, Ben-Omran T, Breyer S, Cormier-Daire V, Gregersen PA, Guillén-Navarro E, Högler W, Maghnie M, Mukherjee S, Cohen S, Pimenta J, Selicorni A, Semler JO, Sigaudy S, Popkov D, Sabir I, Noval S, Sessa M, Irving M. Alanay Y, et al. Orphanet J Rare Dis. 2023 Jun 26;18(1):166. doi: 10.1186/s13023-023-02755-w. Orphanet J Rare Dis. 2023. PMID: 37365619 Free PMC article.
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Aldosary M, Alsagob M, AlQudairy H, González-Álvarez AC, Arold ST, Dababo MA, Alharbi OA, Almass R, AlBakheet A, AlSarar D, Qari A, Al-Ansari MM, Oláhová M, Al-Shahrani SA, AlSayed M, Colak D, Taylor RW, AlOwain M, Kaya N. Aldosary M, et al. Cells. 2022 Oct 7;11(19):3154. doi: 10.3390/cells11193154. Cells. 2022. PMID: 36231115 Free PMC article.
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.
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.
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.
52 results