未登录 Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies Vaseghi, Parisa; Habibi, Laleh; Neidich, Julie A.; Cao, Yang; Fattahi, Neda; Rashidi-Nezhad, Ramin; Salehnezhad, Tayebeh; Dalili, Hossein; Sharbaf, Fatemeh Rahimi; Zarkesh, Mohammad Reza; Malekian, Mahtash; Mokhberdezfuli, Mahdieh; Mehrtash, Amirhosein; Ardeshirdavani, Amin; Kariminejad, Roxana; Ghorbansabagh, Vafa; Sadeghimoghadam, Parvane; Naddaf, Amir; Shirvany, Tahereh Esmaeilnia; Mosayebi, Ziba; Sahebdel, Behrokh; Golshahi, Fatemeh; Shirazi, Mahboobeh; Shamel, Shirin; Moeini, Roksana; Heidari, Abolfazl; Daneshmand, Mohammad Ali; Ghasemi, Reza; Akrami, Seyed Mohammad; Rashidi-Nezhad, Ali 分享 收藏
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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome Kuechler, Alma; Zink, Alexander M.; Wieland, Thomas; Luedecke, Hermann-Josef; Cremer, Kirsten; Salviati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M.; Novarino, Gaia; Engels, Hartmut 分享 收藏
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Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18 父母中18号染色体的周向反转导致表型正常的孩子具有节段性单亲二体18 Kariminejad, Ariana; Kariminejad, Roxana; Moshtagh, Azadeh; Zanganeh, Maryam; Kariminejad, Mohammad Hassan; Neuenschwander, Stefan; Okoniewski, Michal; Wey, Eva; Schinzel, Albert; Baumer, Alessandra 分享 收藏
Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages Behjati, Farkhondeh; Firouzabadi, Saghar Ghasemi; Kahrizi, Kimia; Kariminejad, Roxana; Bagherizadeh, Iman; Ansari, Javad; Fallah, Masoumeh; Mojtahedi, Forough; Darvish, Hossein; Monajemi, Gholamreza Bahrami; Abedini, S. Sedigheh; Jamali, Payman; Mojahedi, Faezeh; Zadeh-Vakili, Azita; Najmabadi, Hossein 分享 收藏
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 常染色体隐性遗传Kahrizi综合征 (OMIM 612713) 家族的下一代测序揭示了SRD5A3的纯合移码突变 Kahrizi, Kimia; Hu, Cougar Hao; Garshasbi, Masoud; Abedini, Seyedeh Sedigheh; Ghadami, Shirin; Kariminejad, Roxana; Ullmann, Reinhard; Chen, Wei; Ropers, H-Hilger; Kuss, Andreas W.; Najmabadi, Hossein; Tzschach, Andreas 分享 收藏
Mucopolysaccharidosis Type IIID: 12 New Patients and 15 Novel Mutations Valstar, Marlies J.; Bertoli-Avella, Aida M.; Wessels, Marja W.; Ruijter, George J. G.; de Graaf, Bianca; Olmer, Renske; Elfferich, Peter; Neijs, Sanne; Kariminejad, Roxana; Ezgue, Fatih Suheyl; Tokatli, Aysegul; Czartoryska, Barbara; Bosschaart, Ad N.; van den Bos-Terpstra, Feikje; Puissant, Hugues; Buerger, Friederike; Omran, Heymut; Eckert, D.; Filocamo, Mirella; Simeonov, Emil; Willems, Patrick J.; Wevers, Ron A.; Niermeijer, Martinus F.; Halley, Dicky J. J.; Poorthuis, Ben J. H. M.; van Diggelen, Otto P. 分享 收藏
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4 严重智力低下，白内障，结肠癌和脊柱后凸的常染色体隐性综合征映射到4号染色体的着丝粒周围区域 Kahrizi, Kimia; Najmabadi, Hossein; Kariminejad, Roxana; Jamali, Payman; Malekpour, Mahdi; Garshasbi, Masoud; Ropers, Hans Hilger; Kuss, Andreas Walter; Tzschach, Andreas 分享 收藏
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation Garshasbi, Masoud; Hadavi, Valeh; Habibi, Haleh; Kahrizi, Kimia; Kariminejad, Roxana; Behjati, Farkhondeh; Tzschach, Andreas; Najmabadi, Hossein; Ropers, Hans Hilger; Kuss, Andreas Walter 分享 收藏
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Elucidating the spectrum of α-thalassemia mutations in Iran Hadavi, Valeh; Taromchi, Amir Hossein; Malekpour, Mahdi; Gholami, Behjat; Law, Hai-Yang; Almadani, Navid; Afroozan, Fariba; Sahebjam, Farhad; Pajouh, Parisa; Kariminejad, Roxana; Kariminejad, Mohammad Hassan; Azarkeivan, Azita; Jafroodi, Maryam; Tamaddoni, Ahmad; Puehringer, Helene; Oberkanins, Christian; Najmabadi, Hossein 分享 收藏
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