未登录Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
Yap, Zheng Yie; Efthymiou, Stephanie; Seiffert, Simone; Parra, Karen Vargas; Lee, Sukyeong; Nasca, Alessia; Maroofian, Reza; Schrauwen, Isabelle; Pendziwiat, Manuela; Jung, Sunhee; Bhoj, Elizabeth; Striano, Pasquale; Mankad, Kshitij; Vona, Barbara; Cuddapah, Sanmati; Wagner, Anja; Alvi, Javeria Raza; Davoudi-Dehaghani, Elham; Fallah, Mohammad-Sadegh; Gannavarapu, Srinitya; Lamperti, Costanza; Legati, Andrea; Murtaza, Bibi Nazia; Nadeem, Muhammad Shahid; Rehman, Mujaddad Ur; Saeidi, Kolsoum; Salpietro, Vincenzo; von Spiczak, Sarah; Sandoval, Abigail; Zeinali, Sirous; Zeviani, Massimo; Reich, Adi; Jang, Cholsoon; Helbig, Ingo; Barakat, Tahsin Stefan; Ghezzi, Daniele; Leal, Suzanne M.; Weber, Yvonne; Houlden, Henry; Yoon, Wan Hee .png)
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收藏Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfectaTran, Thao T.; Keller, Rachel B.; Guillemyn, Brecht; Pepin, Melanie; Corteville, Jane E.; Khatib, Samir; Fallah, Mohammad-Sadegh; Zeinali, Sirous; Malfait, Fransiska; Symoens, Sofie; Coucke, Paul; Witters, Peter; Levtchenko, Elena; Bagherian, Hamideh; Nickerson, Deborah A.; Bamshad, Michael J.; Chong, Jessica X.; Byers, Peter H. 分享 收藏 ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variantsACER3-related白质脑病: 由于新的变异而扩大了临床和影像学表现范围Dehnavi, Ali Zare; Heidari, Erfan; Rasulinezhad, Maryam; Heidari, Morteza; Ashrafi, Mahmoud Reza; Hosseini, Mohammad Mahdi; Sadeghzadeh, Fatemeh; Fallah, Mohammad-Sadegh; Rostampour, Noushin; Bahraini, Amir; Garshasbi, Masoud; Tavasoli, Ali Reza 分享 收藏 Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderPolla, Daniel L.; Farazi Fard, Mohammad Ali; Tabatabaei, Zahra; Habibzadeh, Parham; Levchenko, Olga A.; Nikuei, Pooneh; Makrythanasis, Periklis; Hussain, Mureed; von Hardenberg, Sandra; Zeinali, Sirous; Fallah, Mohammad-Sadegh; Schuurs-Hoeijmakers, Janneke H. M.; Shahzad, Mohsin; Fatima, Fareeha; Fatima, Neelam; Kaat, Laura Donker; Bruggenwirth, Hennie T.; Fleming, Leah R.; Condie, John; Ploski, Rafal; Pollak, Agnieszka; Pilch, Jacek; Demina, Nina A.; Chukhrova, Alena L.; Sergeeva, Vasilina S.; Venselaar, Hanka; Masri, Amira T.; Hamamy, Hanan; Santoni, Federico A.; Linda, Katrin; Ahmed, Zubair M.; Nadif Kasri, Nael; de Brouwer, Arjan P. M.; Bergmann, Anke K.; Hethey, Sven; Yavarian, Majid; Ansar, Muhammad; Riazuddin, Saima; Riazuddin, Sheikh; Silawi, Mohammad; Ruggeri, Gaia; Pirozzi, Filomena; Eftekhar, Ebrahim; Taghipour Sheshdeh, Afsaneh; Bahramjahan, Shima; Mirzaa, Ghayda M.; Lavrov, Alexander V.; Antonarakis, Stylianos E.; Faghihi, Mohammad Ali; van Bokhoven, Hans 分享 收藏 Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutationsMotlagh, F. Zafarghandi; Fallah, M. S.; Bagherian, H.; Shirzadeh, T.; Ghasri, S.; Dabbagh, S.; Jamali, M.; Salehi, Z.; Abiri, M.; Zeinali, S. 分享 收藏 分享 收藏 Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetesSteinthorsdottir, Valgerdur; Thorleifsson, Gudmar; Sulem, Patrick; Helgason, Hannes; Grarup, Niels; Sigurdsson, Asgeir; Helgadottir, Hafdis T.; Johannsdottir, Hrefna; Magnusson, Olafur T.; Gudjonsson, Sigurjon A.; Justesen, Johanne M.; Harder, Marie N.; Jorgensen, Marit E.; Christensen, Cramer; Brandslund, Ivan; Sandbaek, Annelli; Lauritzen, Torsten; Vestergaard, Henrik; Linneberg, Allan; Jorgensen, Torben; Hansen, Torben; Daneshpour, Maryam S.; Fallah, Mohammad-Sadegh; Hreidarsson, Astradur B.; Sigurdsson, Gunnar; Azizi, Fereidoun; Benediktsson, Rafn; Masson, Gisli; Helgason, Agnar; Kong, Augustine; Gudbjartsson, Daniel F.; Pedersen, Oluf; Thorsteinsdottir, Unnur; Stefansson, Kari 分享 收藏 分享 收藏 
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