Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants von Kroos, Marian, Hoogeveen-Westerveld, Marianne, Michelakakis, Helen, Pomponio, Robert, Van der Ploeg, Ans, Halley, Dicky, Reuser, Arnold, Augoustides-Savvopoulou, Persephone, Ausems, Margreet, Llona, Jose Barcena, Bautista Lorite, Juan, van der Beek, Nadine, Bonafe, Luisa, Cuk, Mario, D'Hooghe, Marc, Engelen, Baziel, Farouk, A., Fumic, K., Garcia-Delgado, E., Herzog, Andreas, Hurst, J., Jones, Simon, Kariminejad, M. H., Küçükçongar, Aynur, Lissens, W., Lund, Allan, Majoor-Krakauer, Danielle, Kumamoto, Shingo, Maravi, E., Marie, Suely, Mengel, Eugen, Mavridou, Irene, Munteis Olivas, E., Najmabadi, H., Okumiya, Toshika, Peric, Stojan, Paschke, Eduard, Plecko, Barbara, Robberecht, Wim, Serdaroglu, Piraye, Shboul, Mohammad, Tansek, Mojca Zerjav, Tarnutzer, A., Stojanovic, Vidosava Rakocevic, Tylki-Szymanska, Anna, Venâncio, Maria, Verhoeven, Kristof

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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

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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

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Science of breeding and heredity from ancient Persia to modern Iran von Kariminejad, Mohammad H, Khorshidian, Ardeshir

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Unusual presentation of Goltz syndrome with minimal ectodermal involvement in a 3-year-old Iranian girl von Rajaee, A, Nabavinia, N, Kariminejad, M H, Lombardi, M P, Hennekam, R, Kariminejad, A

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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

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Lung hypoplasia and its associated major congenital abnormalities in perinatal death: An autopsy study of 850 cases von Aghabiklooei, A., Goodarzi, P., Kariminejad, Mohammad H.

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Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities von Kretz, R, Bozorgmehr, B, Kariminejad, M H, Rohrbach, M, Hausser, I, Baumer, A, Baumgartner, Matthias R, Giunta, C, Kariminejad, A, Häberle, J

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Lung Hypoplasia and its Associated Major Congenital Abnormalities in Perinatal Death von AGHABIKLOOEI, A, GOODARZI, P, KARIMINEJAD, M. H

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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

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Ehlers-Danlos syndrome type VI in a 17-year-old Iranian boy with severe muscular weakness – a diagnostic challenge? von Kariminejad, A, Bozorgmehr, B, Khatami, A R, Kariminejad, M H, Giunta, C, Steinmann, B

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Gonadoblastoma associated with mixed gonadal dysgenesis von Kariminejad, M.H., Movlavi, M.A., Nasserghodssi, M.A., Ghafoorzadeh, Dj, Behjatnia, Y.

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Female adnexal tumor of probable wolffian origin. A Distinctive Pathologic Entity von Kariminejad, Mohammad Hasan, Scully, Robert E.

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Analysis of BRCA1 and BRCA2 mutations in an Iranian family with hereditary breast and ovarian cancer syndrome von Moslehi, Roxana, Karimi-Nejad, M. Hassan, Ghafari, Vahraz, Narod, Steven

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HUMAN TESTOSTERONE-OESTRADIOL BINDING GLOBULIN IN HEALTH AND DISEASE von WENN, R V, KAMBERI, I A, VOSSOUGH, P, KARIMINEJAD, M H, TORABEE, E, AYOUGHI, F, KEYVANJAH, M, SARBERI, N

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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

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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

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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

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SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion von Sansbury, F. H., Flanagan, S. E., Houghton, J. A. L., Shuixian Shen, F. L., Al-Senani, A. M. S., Habeb, A. M., Abdullah, M., Kariminejad, A., Ellard, S., Hattersley, A. T.

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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa von Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Peter K.C., Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.

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