학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 30건 | 목록 1~10
Electronic Resource
Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Ghayoor Karimiani, Ehsan; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Sheraz, Khan; Al Shalan, Maha; Hickey, Scott E; et al; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita (2023). Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain: a journal of neurology, 146(12):5031-5043.
Academic Journal
Maroofian, RezaKaiyrzhanov, RauanCali, ElisaZamani, MinaZaki, Maha S.Ferla, MatteoTortora, DomenicoSadeghian, SaeidSaadi, Saadia MaryamAbdullah, UzmaKarimiani, Ehsan GhayoorEfthymiou, StephanieYesil, GoezdeAlavi, ShahryarAl Shamsi, Aisha M.Tajsharghi, HomaAbdel-Hamid, Mohamed S.Saadi, Nebal WaillAl Mutairi, FuadAlabdi, LamaBeetz, ChristianAli, ZafarToosi, Mehran BeiraghiRudnik-Schoeneborn, SabineBabaei, MeisamIsohanni, PirjoMuhammad, JameelKhan, SherazAl Shalan, MahaHickey, Scott E.Marom, DaphnaElhanan, EmilKurian, Manju A.Marafi, DanaSaberi, AlihosseinHamid, MohammadSpaull, RobertMeng, LinyanLalani, SeemaMaqbool, ShaziaRahman, FatimaSeeger, JuergenPalculict, Timothy BlakeLau, TracyMurphy, DavidMencacci, Niccolo EmanueleSteindl, KatharinaBegemann, AnaisRauch, AnitaAkbas, SinanAslanger, Ayca DilrubaSalpietro, VincenzoYousaf, HammadBen-Shachar, ShayEjeskaer, KatarinaAl Aqeel, Aida, IHigh, Frances A.Armstrong-Javors, Amy E.Zahraei, Seyed MohammadsalehSeifi, TaherehZeighami, JawaherShariati, GholamrezaSedaghat, AlirezaAsl, Samaneh NorooziShahrooei, MohmmadZifarelli, GiovanniBurglen, LydieRavelli, ClaudiaZschocke, JohannesSchatz, Ulrich A.Ghavideldarestani, MaryamKamel, Walaa A.Van Esch, HildeHackenberg, AnnetteTaylor, Jenny C.Al-Gazali, LihadhBauer, PeterGleeson, Joseph J.Alkuraya, Fowzan SamiLupski, James R.Galehdari, HamidAzizimalamiri, RezaChung, Wendy K.Baig, Shahid MahmoodHoulden, HenrySeverino, Mariasavina
BRAIN; JUL 30 2023, 13p.
Electronic Resource
Faryal , S , Farooq , M , Abdullah , U , Ali , Z , Saadi , S M , Ullah , F , Khan , K , Sarwar , Y , Sher , M , Chopra , A A , Tommerup , N & Baig , S M 2021 , ' A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family : Clinical report and mini review ' , European Journal of Medical Genetics , vol. 64 , no. 7 , 104226 .
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[검색어] Saadia Maryam Saadi
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