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Year Number of Results
2010 1
2012 3
2013 2
2014 1
2015 3
2016 4
2017 2
2018 5
2019 5
2020 8
2021 6
2022 7
2023 4
2024 4

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Page 1
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Materna M, Delmonte OM, Bosticardo M, Momenilandi M, Conrey PE, Charmeteau-De Muylder B, Bravetti C, Bellworthy R, Cederholm A, Staels F, Ganoza CA, Darko S, Sayed S, Le Floc'h C, Ogishi M, Rinchai D, Guenoun A, Bolze A, Khan T, Gervais A, Krüger R, Völler M, Palterer B, Sadeghi-Shabestari M, Langlois de Septenville A, Schramm CA, Shah S, Tello-Cajiao JJ, Pala F, Amini K, Campos JS, Lima NS, Eriksson D, Lévy R, Seeleuthner Y, Jyonouchi S, Ata M, Al Ali F, Stittrich A, Deswarte C, Pereira A, Mégret J, Le Voyer T, Bastard P, Berteloot L, Dussiot M, Vladikine N, Cardenas PP, Jouanguy E, Alqahtani M, Hasan A, Thanaraj TA, Rosain J, Al Qureshah F, Sabato V, Alyanakian MA, Leruez-Ville M, Rozenberg F, Haddad E, Regueiro JR, Toribio ML, Kelsen JR, Salehi M, Nasiri S, Torabizadeh M, Rokni-Zadeh H, Changi-Ashtiani M, Vatandoost N, Moravej H, Akrami SM, Mazloomrezaei M, Cobat A, Meyts I, Toyofuku E, Nishimura M, Moriya K, Mizukami T, Imai K, Abel L, Malissen B, Al-Mulla F, Alkuraya FS, Parvaneh N, von Bernuth H, Beetz C, Davi F, Douek DC, Cheynier R, Langlais D, Landegren N, Marr N, Morio T, Shahrooei M, Schrijvers R, Henrickson SE, Luche H, Notarangelo LD, Casanova JL, Béziat V. Materna M, et al. Among authors: moravej h. Science. 2024 Mar;383(6686):eadh4059. doi: 10.1126/science.adh4059. Epub 2024 Mar 1. Science. 2024. PMID: 38422122 Free PMC article.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: moravej h. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.
Fatehi F, Ashrafi MR, Babaee M, Ansari B, Beiraghi Toosi M, Boostani R, Eshraghi P, Fakharian A, Hadipour Z, Haghi Ashtiani B, Moravej H, Nilipour Y, Sarraf P, Sayadpour Zanjani K, Nafissi S. Fatehi F, et al. Among authors: moravej h. Front Neurol. 2021 Sep 21;12:739931. doi: 10.3389/fneur.2021.739931. eCollection 2021. Front Neurol. 2021. PMID: 34621239 Free PMC article. Review.
Serum Troponin I Level in Children with Diabetic Ketoacidosis.
Mehdizadegan N, Ilkhanipoor H, Rezaee P, Yazdani N, Amoozgar H, Mirrashidi FS, Moravej H. Mehdizadegan N, et al. Among authors: moravej h. J Tehran Heart Cent. 2022 Oct;17(4):252-254. doi: 10.18502/jthc.v17i4.11616. J Tehran Heart Cent. 2022. PMID: 37143758 Free PMC article. No abstract available.
Role of Selenium Deficiency in Pediatrics with Acquired Hypothyroidism.
Moravej H, Rakhshandehroo S, Ilkhanipoor H, Amirhakimi A, Rostami K, Yazdani N, Moghtaderi M, Mazlumi-Abrazgah S. Moravej H, et al. Int J Prev Med. 2021 Jul 9;12:83. doi: 10.4103/ijpvm.IJPVM_432_20. eCollection 2021. Int J Prev Med. 2021. PMID: 34584649 Free PMC article.
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Ghaffari SR, Rafati M, Shadnoush M, Pourbabaee S, Aghighi M, Mirab Samiee S, Kermanchi J, Alaei MR, Salehpour S, Amirkashani D, Setoodeh A, Sarkhail P, Badv RS, Aminzadeh M, Shiva S, Eshraghi P, Moravej H, Hashemipour M, Rostampour N, Hamidieh AA, Shamsian BS, Shams S, Zamanfar D, Ebrahimi A, Otadi A, Tara SZ, Barati Z, Fakhri L, Hoseini A, Amiri H, Ramandi S, Mostofinezhad N, Kani ZP, Mohammadyari E, Khosravi M, Saadati M, Hoseininasab F, Khorram Khorshid HR, Modaberisaber Y. Ghaffari SR, et al. Among authors: moravej h. Hum Mutat. 2022 Apr;43(4):e1-e23. doi: 10.1002/humu.24328. Epub 2022 Feb 3. Hum Mutat. 2022. PMID: 35005816
50 results