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

Year Number of Results
2019 1
2020 5
2021 7
2022 5
2024 6

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23 results

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Page 1
Human genetics of Buruli ulcer.
Manry J. Manry J. Hum Genet. 2020 Jun;139(6-7):847-853. doi: 10.1007/s00439-020-02163-1. Epub 2020 Apr 7. Hum Genet. 2020. PMID: 32266523 Review.
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
Tusseau M, Lovšin E, Samaille C, Pescarmona R, Mathieu AL, Maggio MC, Selmanović V, Debeljak M, Dachy A, Novljan G, Janin A, Januel L, Gibier JB, Chopin E, Rouvet I, Goncalves D, Fabien N, Rice GI, Lesca G, Labalme A, Romagnani P, Walzer T, Viel S, Perret M, Crow YJ, Avčin T, Cimaz R, Belot A. Tusseau M, et al. J Clin Immunol. 2022 Aug;42(6):1310-1320. doi: 10.1007/s10875-022-01287-5. Epub 2022 Jun 7. J Clin Immunol. 2022. PMID: 35670985
Cilia in hereditary cerebral anomalies.
Thomas S, Boutaud L, Reilly ML, Benmerah A. Thomas S, et al. Biol Cell. 2019 Sep;111(9):217-231. doi: 10.1111/boc.201900012. Epub 2019 Jun 17. Biol Cell. 2019. PMID: 31177551 Free article. Review.
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, Picard A, Porntaveetus T, Rio M, Rouxel F, Shotelersuk V, Toutain A, Yauy K, Geneviève D, Khonsari RH, Garcelon N. Hennocq Q, et al. Sci Rep. 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. Sci Rep. 2024. PMID: 38282012 Free PMC article.
Slc20a1 and Slc20a2 regulate neuronal plasticity and cognition independently of their phosphate transport ability.
Ramos-Brossier M, Romeo-Guitart D, Lanté F, Boitez V, Mailliet F, Saha S, Rivagorda M, Siopi E, Nemazanyy I, Leroy C, Moriceau S, Beck-Cormier S, Codogno P, Buisson A, Beck L, Friedlander G, Oury F. Ramos-Brossier M, et al. Cell Death Dis. 2024 Jan 9;15(1):20. doi: 10.1038/s41419-023-06292-z. Cell Death Dis. 2024. PMID: 38195526 Free PMC article.
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Bertrand A, Ba I, Kermasson L, Pirabakaran V, Chable N, Lainey E, Ménard C, Kallel F, Picard C, Hadiji S, Coolen-Allou N, Blanchard E, de Villartay JP, Moshous D, Roelens M, Callebaut I, Kannengiesser C, Revy P. Bertrand A, et al. Hum Mol Genet. 2024 Mar 20;33(7):612-623. doi: 10.1093/hmg/ddad210. Hum Mol Genet. 2024. PMID: 38176734
Association of Antihypertensive Agents with the Risk of In-Hospital Death in Patients with Covid-19.
Chouchana L, Beeker N, Garcelon N, Rance B, Paris N, Salamanca E, Polard E, Burgun A, Treluyer JM, Neuraz A; AP-HP/Universities/Inserm COVID-19 research collaboration, AP-HP Covid CDR Initiative, and “Entrepôt de Données de Santé” AP-HP Consortium”. Chouchana L, et al. Cardiovasc Drugs Ther. 2022 Jun;36(3):483-488. doi: 10.1007/s10557-021-07155-5. Epub 2021 Feb 17. Cardiovasc Drugs Ther. 2022. PMID: 33595761 Free PMC article.
23 results