학술논문
'학술논문'
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1~10
Saadi, Saadia Maryam; Cali, Elisa; Khalid, Lubaba Bintee; Yousaf, Hammad; Zafar, Ghazala; Khan, Haq Nawaz; Sher, Muhammad; Vona, Barbara; Abdullah, Uzma; Malik, Naveed Altaf; Klar, Joakim, PhD, 1974; Efthymiou, Stephanie; Dahl, Niklas; Houlden, Henry; Toft, Mathias; Baig, Shahid Mahmood; Fatima, Ambrin; Iqbal, Zafar
Genes. 14(7)
Academic Journal
Faryal, Sanam; Farooq, Muhammad; Abdullah, Uzma; Ali, Zafar; Saadi, Saadia Maryam; Ullah, Farid; Khan, Kamal; Sarwar, Yasra; Sher, Muhammad; Chopra, Anuja Arora; Tommerup, Niels; Baig, Shahid M.
In European Journal of Medical Genetics July 2021 64(7)
Academic Journal
Saadia Maryam Saadi; Elisa Cali; Lubaba Bintee Khalid; Hammad Yousaf; Ghazala Zafar; Haq Nawaz Khan; Muhammad Sher; Barbara Vona; Uzma Abdullah; Naveed Altaf Malik; Joakim Klar; Stephanie Efthymiou; Niklas Dahl; Henry Houlden; Mathias Toft; Shahid Mahmood Baig; Ambrin Fatima; Zafar Iqbal
Genes, Vol 14, Iss 7, p 1404 (2023)
Electronic Resource
Maroofian, Reza; https://orcid.org/0000-0001-6763-1542; Kaiyrzhanov, Rauan; https://orcid.org/0000-0003-1640-4010; Cali, Elisa; Zamani, Mina; https://orcid.org/0000-0002-7005-3787; Zaki, Maha S; Ferla, Matteo; https://orcid.org/0000-0002-5508-4673; Tortora, Domenico; https://orcid.org/0000-0002-5621-4046; Sadeghian, Saeid; https://orcid.org/0000-0002-7935-3401; Saadi, Saadia Maryam; Abdullah, Uzma; Ghayoor Karimiani, Ehsan; Efthymiou, Stephanie; https://orcid.org/0000-0003-4900-9877; 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; https://orcid.org/0000-0001-8332-0672; Babaei, Meisam; Isohanni, Pirjo; https://orcid.org/0000-0002-0156-1614; Muhammad, Jameel; Sheraz, Khan; https://orcid.org/0000-0003-3207-4074; Al Shalan, Maha; Hickey, Scott E; et al; Steindl, Katharina; https://orcid.org/0000-0002-4425-3072; Begemann, Anaïs; https://orcid.org/0000-0001-6762-0819; Rauch, Anita; https://orcid.org/0000-0003-2930-3163
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, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; 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-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina
Academic Journal
Yousaf, Hammad; Rehmat, Shagufta; Jameel, Muhammad; Ibrahim, Rabab; Hashmi, Sohana Nadeem; Makhdoom, Ehtisham Ul Haq; Iwaszkiewicz, Justyna; Saadi, Saadia Maryam; Tariq, Muhammad; Baig, Shahid M.; Toft, Mathias; Fatima, Ambrin; Iqbal, Zafar
Academic Journal
Ehtisham Ul Haq Makhdoom; Syeda Seema Waseem; Maria Iqbal; Uzma Abdullah; Ghulam Hussain; Maria Asif; Birgit Budde; Wolfgang Höhne; Sigrid Tinschert; Saadia Maryam Saadi; Hammad Yousaf; Zafar Ali; Ambrin Fatima; Emrah Kaygusuz; Ayaz Khan; Muhammad Jameel; Sheraz Khan; Muhammad Tariq; Iram Anjum; Janine Altmüller; Holger Thiele; Stefan Höning; Shahid Mahmood Baig; Peter Nürnberg; Muhammad Sajid Hussain
Genes, Vol 12, Iss 5, p 731 (2021)
Academic Journal
Ali, Zafar; Fatima, Ambrin; Saadi, Saadia Maryam; Jameel, Muhammad; Baig, Shahid M.; Toft, Mathias; Iqbal, Zafar
Electronic Resource
Faryal, Sanam; Farooq, Muhammad; Abdullah, Uzma; Ali, Zafar; Saadi, Saadia Maryam; Ullah, Farid; Khan, Kamal; Sarwar, Yasra; Sher, Muhammad; Chopra, Anuja Arora; Tommerup, Niels; Baig, Shahid M.
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 .
Electronic Resource
Makhdoom, Ehtisham Ul Haq; Waseem, Syeda Seema; Iqbal, Maria; Abdullah, Uzma; Hussain, Ghulam; Asif, Maria; Budde, Birgit; Hoehne, Wolfgang; Tinschert, Sigrid; Saadi, Saadia Maryam; Yousaf, Hammad; Ali, Zafar; Fatima, Ambrin; Kaygusuz, Emrah; Khan, Ayaz; Jameel, Muhammad; Khan, Sheraz; Tariq, Muhammad; Anjum, Iram; Altmueller, Janine; Thiele, Holger; Hoening, Stefan; Baig, Shahid Mahmood; Nuernberg, Peter; Hussain, Muhammad Sajid
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[검색어] Saadia Maryam Saadi
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