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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Synodinos JT, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, Guyader GLE, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: majdoub f. Eur J Hum Genet. 2024 Aug;32(8):1032. doi: 10.1038/s41431-024-01659-y. Eur J Hum Genet. 2024. PMID: 39060653 Free PMC article. No abstract available.
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.
Smal N, Majdoub F, Janssens K, Reyniers E, Meuwissen MEC, Ceulemans B, Northrup H, Hill JB, Liu L, Errichiello E, Gana S, Strong A, Rohena L, Franciskovich R, Murali CN, Huybrechs A, Sulem T, Fridriksdottir R, Sulem P, Stefansson K, Bai Y, Rosenfeld JA, Lalani SR, Streff H; Undiagnosed Diseases Network; Kooy RF, Weckhuysen S. Smal N, et al. Among authors: majdoub f. Eur J Hum Genet. 2024 Nov;32(11):1378-1386. doi: 10.1038/s41431-024-01661-4. Epub 2024 Jul 4. Eur J Hum Genet. 2024. PMID: 38965372
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: majdoub f. Eur J Hum Genet. 2024 Aug;32(8):928-937. doi: 10.1038/s41431-024-01610-1. Epub 2024 Apr 27. Eur J Hum Genet. 2024. PMID: 38678163 Free PMC article.
[Clinical examination of the child's foot].
Ben Nessib D, Majdoub F, Ferjani HL, Kaffel D, Maatallah K, Hamdi W. Ben Nessib D, et al. Among authors: majdoub f. Rev Prat. 2023 Oct;73(8):890-894. Rev Prat. 2023. PMID: 38354015 French.
Epidemiological, Bacteriological, and Evolutive Features of Children Hospitalized for Infective Endocarditis in a Tertiary Tunisian Pediatric Department.
Ajmi H, Herch R, ElGhali H, Ben Sliman D, Ben Rejeb M, Mabrouk S, Majdoub F, Nouir S, Tilouche L, Trabelsi A, Abroug S, Chemli J. Ajmi H, et al. Among authors: majdoub f. J Saudi Heart Assoc. 2023 Dec 31;35(4):339-345. doi: 10.37616/2212-5043.1361. eCollection 2023. J Saudi Heart Assoc. 2023. PMID: 38226070 Free PMC article.
Clinical and radiological findings of posterior reversible encephalopathy syndrome in children: About 16 children hospitalized in the pediatric department of a Tunisian tertiary care hospital.
Ajmi H, Brahim J, Mabrouk S, Ben Abdallah A, Zouari N, Majdoub F, Nouir S, Hasni I, Ben Cheikh Y, Chemli J, Jemni H, Abroug S. Ajmi H, et al. Among authors: majdoub f. Eur J Paediatr Neurol. 2023 Mar;43:18-26. doi: 10.1016/j.ejpn.2023.02.003. Epub 2023 Feb 19. Eur J Paediatr Neurol. 2023. PMID: 36871341
46 results