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198 results

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Page 1
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.
Mansouri V, Heidari M, Bemanalizadeh M, Azizimalamiri R, Nafissi S, Akbari MG, Barzegar M, Moayedi AR, Badv RS, Mohamadi M, Tavasoli AR, Amirsalari S, Khajeh A, Inaloo S, Fatehi F, Hosseinpour S, Babaei M, Hosseini SA, Mahdi Hosseiny SM, Fayyazi A, Hosseini F, Toosi MB, Khosroshahi N, Ghabeli H, Biglari HN, Kakhki SK, Mirlohi SH, Bidabadi E, Mohammadi B, Omrani A, Sedighi M, Vafaee-Shahi M, Rasulinezhad M, Hoseini SM, Movahedinia M, Rezaei Z, Karimi P, Farshadmoghadam H, Anvari S, Yaghini O, Nasiri J, Zamani G, Ashrafi MR. Mansouri V, et al. Among authors: omrani a. J Neuromuscul Dis. 2023;10(2):211-225. doi: 10.3233/JND-221614. J Neuromuscul Dis. 2023. PMID: 36776076
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Ashrafi M, Kameli R, Hosseinpour S, Razmara E, Zamani Z, Rezaei Z, Mashayekhi R, Pak N, Barzegar M, Azizimalamiri R, Kashani MR, Khosroshahi N, Rasulinezhad M, Heidari M, Amanat M, Abdi A, Mohammadi B, Mohammadi M, Zamani GR, Badv RS, Omrani A, Nikbakht S, Bereshneh AH, Movahedinia M, Moghaddam HF, Ardakani HS, Akbari MG, Tousi MB, Shahi MV, Hosseini F, Amouzadeh MH, Hosseini SA, Nikkhah A, Khajeh A, Alizadeh H, Yarali B, Rohani M, Karimi P, Elahi HML, Hosseiny SMM, Sadeghzadeh MS, Mohebbi H, Moghadam MH, Aryan H, Vahidnezhad H, Soveizi M, Rabbani B, Rabbani A, Mahdieh N, Garshasbi M, Tavasoli AR. Ashrafi M, et al. Among authors: omrani a. Neurogenetics. 2023 Oct;24(4):279-289. doi: 10.1007/s10048-023-00730-y. Epub 2023 Aug 19. Neurogenetics. 2023. PMID: 37597066
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Ashrafi M, Kameli R, Hosseinpour S, Razmara E, Zamani Z, Rezaei Z, Mashayekhi R, Pak N, Barzegar M, Azizimalamiri R, Kashani MR, Khosroshahi N, Rasulinezhad M, Heidari M, Amanat M, Abdi A, Mohammadi B, Mohammadi M, Zamani GR, Badv RS, Omrani A, Nikbakht S, Bereshneh AH, Movahedinia M, Moghaddam HF, Ardakani HS, Akbari MG, Tousi MB, Shahi MV, Hosseini F, Amouzadeh MH, Hosseini SA, Nikkhah A, Khajeh A, Alizadeh H, Yarali B, Rohani M, Karimi P, Elahi HML, Hosseiny SMM, Sadeghzadeh MS, Mohebbi H, Moghadam MH, Aryan H, Vahidnezhad H, Soveizi M, Rabbani B, Rabbani A, Mahdieh N, Garshasbi M, Tavasoli AR. Ashrafi M, et al. Among authors: omrani a. Neurogenetics. 2023 Oct;24(4):317-318. doi: 10.1007/s10048-023-00733-9. Neurogenetics. 2023. PMID: 37668767 No abstract available.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Harzallah I, Touraine R, Tajsharghi H, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, Brunetti-Pierri N, Omrani A, Hentschel J, Lemke JR, Sticht H, Abou Jamra R, Brown AEX, Maroofian R, Platzer K. Rosenhahn E, et al. Among authors: omrani a. Am J Hum Genet. 2022 Aug 4;109(8):1421-1435. doi: 10.1016/j.ajhg.2022.06.008. Epub 2022 Jul 12. Am J Hum Genet. 2022. PMID: 35830857 Free PMC article.
Correction: Need for ICU and outcome of critically ill patients with COVID-19 and haematological malignancies: results from the EPICOVIDEHA survey.
Lahmer T, Salmanton-García J, Marchesi F, El-Ashwah S, Nucci M, Besson C, Itri F, Jaksic O, Čolović N, Weinbergerová B, Seval GC, Adžić-Vukičević T, Szotkowski T, Sili U, Dargenio M, van Praet J, van Doesum J, Schönlein M, Ráčil Z, Žák P, Poulsen CB, Magliano G, Jiménez M, Bonuomo V, Piukovics K, Dragonetti G, Demirkan F, Blennow O, Valković T, Gomes Da Silva M, Maertens J, Glenthøj A, Fernández N, Bergantim R, Verga L, Petzer V, Omrani AS, Méndez GA, Machado M, Ledoux MP, Bailén R, Duarte RF, Del Principe MI, Farina F, Martín-Pérez S, Dávila-Valls J, Marchetti M, Bilgin YM, Fracchiolla NS, Cattaneo C, Espigado I, Cordoba R, Collins GP, Labrador J, Falces-Romero I, Prezioso L, Meers S, Passamonti F, Buquicchio C, López-García A, Kulasekararaj A, Ormazabal-Vélez I, Cuccaro A, Garcia-Vidal C, Busca A, Navrátil M, de Jonge N, Biernat MM, Guidetti A, Abu-Zeinah G, Samarkos M, Anastasopoulou A, de Ramón C, González-López TJ, Hoenigl M, Finizio O, Pinczés LI, Ali N, Vena A, Tascini C, Stojanoski Z, Merelli M, Emarah Z, Kohn M, Barać A, Mladenović M, Mišković B, Ilhan O, Çolak GM, Čerňan M, Gräfe SK, Ammatuna E, Hanakova M, Víšek B, Cabirta A, Nordlander A, Nunes Rodrigues R, Hers… See abstract for full author list ➔ Lahmer T, et al. Among authors: omrani as. Infection. 2024 May 21. doi: 10.1007/s15010-024-02240-x. Online ahead of print. Infection. 2024. PMID: 38771466 No abstract available.
198 results