A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation von Garshasbi, Masoud, Hadavi, Valeh, Habibi, Haleh, Kahrizi, Kimia, Kariminejad, Roxana, Behjati, Farkhondeh, Tzschach, Andreas, Najmabadi, Hossein, Ropers, Hans Hilger, Kuss, Andreas Walter

Volltext

Fourteen-Year Experience of Prenatal Diagnosis of Thalassemia in Iran von Najmabadi, Hossein, Ghamari, Alireza, Sahebjam, Farhad, Kariminejad, Roxana, Hadavi, Valeh, Khatibi, Talayeh, Samavat, Ashraf, Mehdipour, Elaheh, Modell, Bernadette, Kariminejad, Mohammand Hassan

Volltext

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18 von Kariminejad, A, Kariminejad, R, Moshtagh, A, Zanganeh, M, Kariminejad, M H, Neuenschwander, S, Okoniewski, M, Wey, E, Schinzel, A, Baumer, A

Volltext

alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia von Garshasbi, M, Oberkanins, C, Law, HY, Neishabury, M, Kariminejad, R, Najmabadi, H

Volltext

Elucidating the spectrum of {alpha}-thalassemia mutations in Iran von 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

Volltext

Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy von Hasanzad, Mandana, Golkar, Zahra, Kariminejad, Roxana, Hadavi, Valeh, Almadani, Navid, Afroozan, Fariba, Salahshurifar, Iman, Shafeghati, Yousef, Kahrizi, Kimia, Najmabadi, Hossein

Volltext

Clinical heterogeneity and chromosome breakage in Iranian patients suspicious of Fanconi anemia von Ghasemi Firoozabadi S, Shafeghati Y, Keyhani E, Kariminejad R, Oloomi Z, Moosavi F, Amini F, Najmabadi H, Behiati F

Volltext

Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation von Karimi-Nejad, A, Karimi-Nejad, R, Najafi, H, Karimi-Nejad, M H

Volltext

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway von Acuna-Hidalgo, Rocio, Schanze, Denny, Kariminejad, Ariana, Nordgren, Ann, Kariminejad, Mohamad Hasan, Conner, Peter, Grigelioniene, Giedre, Nilsson, Daniel, Nordenskjöld, Magnus, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Kayserili, Hülya, Elcioglu, Nursel, Ghaderi-Sohi, Siavash, Goodarzi, Payman, Setayesh, Hamidreza, van de Vorst, Maartje, Steehouwer, Marloes, Pfundt, Rolph, Krabichler, Birgit, Curry, Cynthia, MacKenzie, Malcolm G., Boycott, Kym M., Gilissen, Christian, Janecke, Andreas R., Hoischen, Alexander, Zenker, Martin

Volltext

The genetic basis of DOORS syndrome: an exome-sequencing study von Campeau, Philippe M, MD, Kasperaviciute, Dalia, PhD, Lu, James T, PhD, Burrage, Lindsay C, PhD, Kim, Choel, PhD, Hori, Mutsuki, MD, Powell, Berkley R, MD, Stewart, Fiona, MBBS, Félix, Têmis Maria, PhD, van den Ende, Jenneke, MD, Wisniewska, Marzena, PhD, Kayserili, Hülya, MD, Rump, Patrick, PhD, Nampoothiri, Sheela, MSc, Aftimos, Salim, MD, Mey, Antje, MD, Nair, Lal D V, MD, Begleiter, Michael L, MSc, De Bie, Isabelle, PhD, Meenakshi, Girish, MBBS, Murray, Mitzi L, MD, Repetto, Gabriela M, MD, Golabi, Mahin, MD, Blair, Edward, MD, Male, Alison, MD, Giuliano, Fabienne, MD, Kariminejad, Ariana, MD, Newman, William G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C, PhD, Wieczorek, Dagmar, MD, Tostevin, Anna, MSc, Wiszniewska, Joanna, MD, Cheung, Sau Wai, Prof, Hennekam, Raoul C, Prof, Gibbs, Richard A, Prof, Lee, Brendan H, Prof, Sisodiya, Sanjay M, Prof

Volltext

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor von Kariminejad, Ariana, Dahl-Halvarsson, Martin, Ravenscroft, Gianina, Afroozan, Fariba, Keshavarz, Elham, Goullée, Hayley, Davis, Mark R, Faraji Zonooz, Mehrshid, Najmabadi, Hossein, Laing, Nigel G, Tajsharghi, Homa

Volltext

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants von Kariminejad, Ariana, Vahidnezhad, Hassan, Ghaderi‐Sohi, Siavash, Ghannadan, Ali R., Youssefian, Leila, Parsimehr, Elham, Faraji Zonooz, Mehrshid, Kariminejad, Mohammad H., Uitto, Jouni, Najmabadi, Hossein, Hennekam, Raoul C.

Volltext

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts von Deml, Brett, Kariminejad, Ariana, Borujerdi, Razieh H R, Muheisen, Sanaa, Reis, Linda M, Semina, Elena V

Volltext

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population von Fattahi, Z., Kalhor, Z., Fadaee, M., Vazehan, R., Parsimehr, E., Abolhassani, A., Beheshtian, M., Zamani, G., Nafissi, S., Nilipour, Y., Akbari, M.R., Kahrizi, K., Kariminejad, A., Najmabadi, H.

Volltext

Tikhonov-regularized weighted total least squares formulation with applications to geodetic problems von Kariminejad, M. M., Sharifi, M. A., Amiri-Simkooei, A. R.

Volltext

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia von Kariminejad, Ariana, Szenker-Ravi, Emmanuelle, Lekszas, Caroline, Tajsharghi, Homa, Moslemi, Ali-Reza, Naert, Thomas, Tran, Hong Thi, Ahangari, Fatemeh, Rajaei, Minoo, Nasseri, Mojila, Haaf, Thomas, Azad, Afrooz, Superti-Furga, Andrea, Maroofian, Reza, Ghaderi-Sohi, Siavash, Najmabadi, Hossein, Abbaszadegan, Mohammad Reza, Vleminckx, Kris, Nikuei, Pooneh, Reversade, Bruno

Volltext

Osteogenesis Imperfecta: A Review with Clinical Examples von van Dijk, F.S., Cobben, J.M., Kariminejad, A., Maugeri, A., Nikkels, P.G.J., van Rijn, R.R., Pals, G.

Volltext

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants von Di Zanni, Eleonora, Palagano, Eleonora, Lagostena, Laura, Strina, Dario, Rehman, Asma, Abinun, Mario, De Somer, Lien, Martire, Baldassarre, Brown, Justin, Kariminejad, Ariana, Balasubramaniam, Shanti, Baynam, Gareth, Gurrieri, Fiorella, Pisanti, Maria A, De Maggio, Ilaria, Abboud, Miguel R, Chiesa, Robert, Burren, Christine P, Villa, Anna, Sobacchi, Cristina, Picollo, Alessandra

Volltext

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations von Guergueltcheva, Velina, Müller, Juliane S., Dusl, Marina, Senderek, Jan, Oldfors, Anders, Lindbergh, Christopher, Maxwell, Susan, Colomer, Jaume, Mallebrera, Cecilia Jimenez, Nascimento, Andres, Vilchez, Juan J., Muelas, Nuria, Kirschner, Janbernd, Nafissi, Shahriar, Kariminejad, Ariana, Nilipour, Yalda, Bozorgmehr, Bita, Najmabadi, Hossein, Rodolico, Carmelo, Sieb, Jörn P., Schlotter, Beate, Schoser, Benedikt, Herrmann, Ralf, Voit, Thomas, Steinlein, Ortrud K., Najafi, Abdolhamid, Urtizberea, Andoni, Soler, Doriette M., Muntoni, Francesco, Hanna, Michael G., Chaouch, Amina, Straub, Volker, Bushby, Kate, Palace, Jacqueline, Beeson, David, Abicht, Angela, Lochmüller, Hanns

Volltext

CYP2U1 Mutations in Two Iranian Patients with Activity Induced Dystonia, Motor Regression and Spastic Paraplegia von Kariminejad, A, Schöls, L, Schüle, R, Tonekaboni, S.H, Abolhassani, A, Fadaee, M, Rosti, R.O, Gleeson, J.G

Volltext