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Page 1
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO', Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE. van der Sluijs PJ, et al. Among authors: severi g. Genet Med Open. 2024 Jul 23;2:101873. doi: 10.1016/j.gimo.2024.101873. eCollection 2024. Genet Med Open. 2024. PMID: 39669611 Free PMC article.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F, Graziano C, Al Wardy N, Nouri N, Marconi C, Magini P, Severi G, La Morgia C, Cantalupo G, Cordelli DM, Gangarossa S, Al Kindi MN, Al Khabouri M, Salehi M, Giorgio E, Brusco A, Pisani F, Romeo G, Carelli V, Pippucci T, Seri M. Palombo F, et al. Among authors: severi g. Hum Genet. 2020 Nov;139(11):1429-1441. doi: 10.1007/s00439-020-02187-7. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488467 Free article.
Novel Mutations and Unreported Clinical Features in KBG Syndrome.
Scarano E, Tassone M, Graziano C, Gibertoni D, Tamburrino F, Perri A, Gnazzo M, Severi G, Lepri F, Mazzanti L. Scarano E, et al. Among authors: severi g. Mol Syndromol. 2019 May;10(3):130-138. doi: 10.1159/000496172. Epub 2019 Jan 15. Mol Syndromol. 2019. PMID: 31191201 Free PMC article.
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.
Diquigiovanni C, Rizzardi N, Kampmeier A, Liparulo I, Bianco F, De Nicolo B, Cataldi-Stagetti E, Cuna E, Severi G, Seri M, Bertrand M, Haack TB, Marina AD, Braun F, Fato R, Kuechler A, Bergamini C, Bonora E. Diquigiovanni C, et al. Among authors: severi g. Open Biol. 2023 Jul;13(7):230040. doi: 10.1098/rsob.230040. Epub 2023 Jul 12. Open Biol. 2023. PMID: 37433330 Free PMC article.
568 results