A dual-center analysis of conservative versus liberal glycoprotein IIb–IIIa antagonist strategies in the treatment of ST-elevation myocardial infarction von Callichurn, Kashi, Simard, Philippe, De Marco, Corrado, Jamali, Payman, Saada, Yacine, Matteau, Alexis, Schampaert, Érick, Mansour, Samer, Hatem, Raja, Potter, Brian J.

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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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Effect of inbreeding on intellectual disability revisited by trio sequencing von Kahrizi, Kimia, Hu, Hao, Hosseini, Masoumeh, Kalscheuer, Vera M., Fattahi, Zohreh, Beheshtian, Maryam, Suckow, Vanessa, Mohseni, Marzieh, Lipkowitz, Bettina, Mehvari, Sepideh, Mehrjoo, Zohreh, Akhtarkhavari, Tara, Ghaderi, Zhila, Rahimi, Maryam, Arzhangi, Sanaz, Jamali, Payman, Falahat Chian, Milad, Nikuei, Pooneh, Sabbagh Kermani, Farahnaz, Sadeghinia, Farnaz, Jazayeri, Roshanak, Tonekaboni, S. Hassan, Khoshaeen, Atefeh, Habibi, Haleh, Pourfatemi, Fatemeh, Mojahedi, Faezeh, Khodaie‐Ardakani, Mohammad‐Reza, Najafipour, Reza, Wienker, Thomas F., Najmabadi, Hossein, Ropers, Hans‐Hilger

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When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS) von Mohseni, Marzieh, Akbari, Mojdeh, Booth, Kevin T, Babanejad, Mojgan, Azaiez, Hela, Ardalani, Fariba, Arzhangi, Sanaz, Jalalvand, Khadijeh, Nikzat, Nooshin, Ghodratpour, Fatemeh, Jamali, Payman, Adeli, Omid Ali, Habibi, Haleh, Kahrizi, Kimia, Najmabadi, Hossein

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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population von Abolhassani, Ayda, Fattahi, Zohreh, Beheshtian, Maryam, Fadaee, Mahsa, Vazehan, Raheleh, Ahangari, Fatemeh, Dehdahsi, Shima, Faraji Zonooz, Mehrshid, Parsimehr, Elham, Kalhor, Zahra, Peymani, Fatemeh, Mozaffarpour Nouri, Maryam, Babanejad, Mojgan, Noudehi, Khadijeh, Fatehi, Fatemeh, Zamanian Najafabadi, Shima, Afroozan, Fariba, Yazdan, Hilda, Bozorgmehr, Bita, Azarkeivan, Azita, Sadat Mahdavi, Shokouh, Nikuei, Pooneh, Fatehi, Farzad, Jamali, Payman, Ashrafi, Mahmoud Reza, Karimzadeh, Parvaneh, Habibi, Haleh, Kahrizi, Kimia, Nafissi, Shahriar, Kariminejad, Ariana, Najmabadi, Hossein

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P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders von Abolhassani, Ayda, Fattahi, Zohreh, Beheshtian, Maryam, Fadaee, Mahsa, Vazehan, Raheleh, Ahangari, Fatemeh, Dehdahsi, Shima, Zonooz, Mehrshid Faraji, Parsimehr, Elham, Kalhor, Zahra, Peymani, Fatemeh, Nouri, Maryam Mozaffarpour, Babanejad, Mojgan, Noudehi, Khadijeh, Fatehi, Fatemeh, Najafabadi, Shima Zamanian, Afroozan, Fariba, Yazdan, Hilda, Bozorgmehr, Bita, Azarkeivan, Azita, Mahdavi, Shokouh Sadat, Nikuei, Pooneh, Fatehi, Farzad, Jamali, Payman, Ashrafi, Mahmoud Reza, Karimzadeh, Parvaneh, Habibi, Haleh, Kahrizi, Kimia, Nafissi, Shahriar, Kariminejad, Ariana, Najmabadi, Hossein

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Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies von Mohammadzadeh, Akbar, Akbaroghli, Susan, Aghaei-Moghadam, Ehsan, Mahdieh, Nejat, Badv, Reza Shervin, Jamali, Payman, Kariminejad, Roxana, Chavoshzadeh, Zahra, Ghasemi Firouzabadi, Saghar, Mansour Ghanaie, Roxana, Nozari, Ahoura, Banihashemi, Sussan, Hadipour, Fatemeh, Hadipour, Zahra, Kariminejad, Ariana, Najmabadi, Hossein, Shafeghati, Yousef, Behjati, Farkhondeh

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Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period von Bazazzadegan, Niloofar, Vazehan, Raheleh, Fadaee, Mahsa, Fattahi, Zohreh, Abolhassani, Ayda, Parsimehr, Elham, Kalhor, Zahra, Faraji Zonooz, Mehrshid, Ahangari, Fatemeh, Dehdahsi, Shima, Samiee, Farshide, Jamali, Payman, Habibi, Haleh, Nourizadeh, Younes, Mahdavi, Shokouh, Beheshtian, Maryam, Kariminejad, Ariana, Smith, Richard Jh, Najmabadi, Hossein

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Genetics of intellectual disability in consanguineous families von Hu, Hao, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Herwig, Ralf, Hosseini, Masoumeh, Oppitz, Cornelia, Abedini, Seyedeh Sedigheh, Suckow, Vanessa, Larti, Farzaneh, Beheshtian, Maryam, Lipkowitz, Bettina, Akhtarkhavari, Tara, Mehvari, Sepideh, Otto, Sabine, Mohseni, Marzieh, Arzhangi, Sanaz, Jamali, Payman, Mojahedi, Faezeh, Taghdiri, Maryam, Papari, Elaheh, Soltani Banavandi, Mohammad Javad, Akbari, Saeide, Tonekaboni, Seyed Hassan, Dehghani, Hossein, Ebrahimpour, Mohammad Reza, Bader, Ingrid, Davarnia, Behzad, Cohen, Monika, Khodaei, Hossein, Albrecht, Beate, Azimi, Sarah, Zirn, Birgit, Bastami, Milad, Wieczorek, Dagmar, Bahrami, Gholamreza, Keleman, Krystyna, Vahid, Leila Nouri, Tzschach, Andreas, Gärtner, Jutta, Gillessen-Kaesbach, Gabriele, Varaghchi, Jamileh Rezazadeh, Timmermann, Bernd, Pourfatemi, Fatemeh, Jankhah, Aria, Chen, Wei, Nikuei, Pooneh, Kalscheuer, Vera M., Oladnabi, Morteza, Wienker, Thomas F., Ropers, Hans-Hilger, Najmabadi, Hossein

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders von Najmabadi, Hossein, Hu, Hao, Garshasbi, Masoud, Zemojtel, Tomasz, Abedini, Seyedeh Sedigheh, Chen, Wei, Hosseini, Masoumeh, Behjati, Farkhondeh, Haas, Stefan, Jamali, Payman, Zecha, Agnes, Mohseni, Marzieh, Püttmann, Lucia, Vahid, Leyla Nouri, Jensen, Corinna, Moheb, Lia Abbasi, Bienek, Melanie, Larti, Farzaneh, Mueller, Ines, Weissmann, Robert, Darvish, Hossein, Wrogemann, Klaus, Hadavi, Valeh, Lipkowitz, Bettina, Esmaeeli-Nieh, Sahar, Wieczorek, Dagmar, Kariminejad, Roxana, Firouzabadi, Saghar Ghasemi, Cohen, Monika, Fattahi, Zohreh, Rost, Imma, Mojahedi, Faezeh, Hertzberg, Christoph, Dehghan, Atefeh, Rajab, Anna, Banavandi, Mohammad Javad Soltani, Hoffer, Julia, Falah, Masoumeh, Musante, Luciana, Kalscheuer, Vera, Ullmann, Reinhard, Kuss, Andreas Walter, Tzschach, Andreas, Kahrizi, Kimia, Ropers, H. Hilger

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Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability von Musante, Luciana, Püttmann, Lucia, Kahrizi, Kimia, Garshasbi, Masoud, Hu, Hao, Stehr, Henning, Lipkowitz, Bettina, Otto, Sabine, Jensen, Lars R., Tzschach, Andreas, Jamali, Payman, Wienker, Thomas, Najmabadi, Hossein, Ropers, Hans Hilger, Kuss, Andreas W.

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Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran von Mohseni, Marzieh, Babanejad, Mojgan, Booth, Kevin T., Jamali, Payman, Jalalvand, Khadijeh, Davarnia, Behzad, Ardalani, Fariba, Khoshaeen, Atefeh, Arzhangi, Sanaz, Ghodratpour, Fatemeh, Beheshtian, Maryam, Jahanshad, Faezeh, Otukesh, Hasan, Bahrami, Fatemeh, Seifati, Seyed Morteza, Bazazzadegan, Niloofar, Habibi, Farkhonde, Behravan, Hanieh, Mirzaei, Sepide, Keshavarzi, Fatemeh, Nikzat, Nooshin, Mehrjoo, Zohreh, Thiele, Holger, Nothnagel, Michael, Azaiez, Hela, Smith, Richard J., Kahrizi, Kimia, Najmabadi, Hossein

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Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients von Beheshtian, Maryam, Akhtarkhavari, Tara, Mehvari, Sepideh, Mohseni, Marzieh, Fattahi, Zohreh, Abedini, Seyedeh Sedigheh, Arzhangi, Sanaz, Fadaee, Mahsa, Jamali, Payman, Najafipour, Reza, Kalscheuer, Vera M., Hu, Hao, Ropers, Hans‐Hilger, Najmabadi, Hossein, Kahrizi, Kimia

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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, Kai Ching Peter, 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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Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families von Beheshtian, Maryam, Fattahi, Zohreh, Fadaee, Mahsa, Vazehan, Raheleh, Jamali, Payman, Parsimehr, Elham, Kamgar, Mahboubeh, Zonooz, Mehrshid Faraji, Mahdavi, Shokouh Sadat, Kalhor, Zahra, Arzhangi, Sanaz, Abedini, Seyedeh Sedigheh, Kermani, Farahnaz Sabbagh, Mojahedi, Faezeh, Kalscheuer, Vera M., Ropers, Hans‐Hilger, Kariminejad, Ariana, Najmabadi, Hossein, Kahrizi, Kimia

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Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability: MUSANTE ET AL von Musante, Luciana, Püttmann, Lucia, Kahrizi, Kimia, Garshasbi, Masoud, Hu, Hao, Stehr, Henning, Lipkowitz, Bettina, Otto, Sabine, Jensen, Lars R., Tzschach, Andreas, Jamali, Payman, Wienker, Thomas, Najmabadi, Hossein, Ropers, Hans Hilger, Kuss, Andreas W.

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The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss—A twelve year study von Bazazzadegan, Niloofar, Nikzat, Nooshin, Fattahi, Zohreh, Nishimura, Carla, Meyer, Nicole, Sahraian, Shima, Jamali, Payman, Babanejad, Mojgan, Kashef, Atie, Yazdan, Hilda, Sabbagh Kermani, Farahnaz, Taghdiri, Maryam, Azadeh, Batool, Mojahedi, Faezeh, Khoshaeen, Atefeh, Habibi, Haleh, Reyhanifar, Farahnaz, Nouri, Narges, Smith, Richard J.H, Kahrizi, Kimia, Najmabadi, Hossein

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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, Wevers, Ron A, Callewaert, Bert

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Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots von Kuss, Andreas Walter, Garshasbi, Masoud, Kahrizi, Kimia, Tzschach, Andreas, Behjati, Farkhondeh, Darvish, Hossein, Abbasi-Moheb, Lia, Puettmann, Lucia, Zecha, Agnes, Weißmann, Robert, Hu, Hao, Mohseni, Marzieh, Abedini, Seyedeh Sedigheh, Rajab, Anna, Hertzberg, Christoph, Wieczorek, Dagmar, Ullmann, Reinhard, Ghasemi-Firouzabadi, Saghar, Banihashemi, Susan, Arzhangi, Sanaz, Hadavi, Valeh, Bahrami-Monajemi, Gholamreza, Kasiri, Mahboubeh, Falah, Masoumeh, Nikuei, Pooneh, Dehghan, Atefeh, Sobhani, Masoumeh, Jamali, Payman, Ropers, Hans Hilger, Najmabadi, Hossein

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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation von Alber, Michael, Kalscheuer, Vera M, Marco, Elysa, Sherr, Elliott, Lesca, Gaetan, Till, Marianne, Gradek, Gyri, Wiesener, Antje, Korenke, Christoph, Mercier, Sandra, Becker, Felicitas, Yamamoto, Toshiyuki, Scherer, Stephen W, Marshall, Christian R, Walker, Susan, Dutta, Usha R, Dalal, Ashwin B, Suckow, Vanessa, Jamali, Payman, Kahrizi, Kimia, Najmabadi, Hossein, Minassian, Berge A

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