Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems

ανά Farajzadeh Valilou, Saeed, Alavi, Afagh, Pashaei, Mahdiyeh, Ghasemi Firouzabadi, Saghar, Shafeghati, Yousef, Nozari, Ahoura, Hadipour, Fatemeh, Hadipour, Zahra, Maghsoodlou Estrabadi, Bijan, Gholamreza Noorazar, Seyed, Banihashemi, Susan, Karimian, Javad, Fattahi, Mahshid, Behjati, Farkhondeh
Τόπος έκδοσης Mol Syndromol (2020)

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

ανά Behjati, Farkhondeh, Ghasemi Firouzabadi, Saghar, Kahrizi, Kimia, Kariminejad, Roxana, Bagherizadeh, Iman, Ansari, Javad, Fallah, Masoumeh, Mojtahedi, Forough, Darvish, Hossein, Bahrami Monajemi, Gholamreza, Abedini, S. Sedigheh, Jamali, Payman, Mojahedi, Faezeh, Zadeh-Vakili, Azita, Najmabadi, Hossein
Έκδοση 2011

Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications

ανά Ghasemi Firouzabadi, Saghar, Vameghi, Roshanak, Kariminejad, Roxana, Darvish, Hossein, Banihashemi, Susan, Firouzkouhi Moghaddam, Mahboubeh, Jamali, Peyman, Farbod Mofidi Tehrani, Hassan, Dehghani, Hossein, Raeisoon, Mohammad Reza, Narooie-Nejad, Mehrnaz, Jamshidi, Javad, Tafakhori, Abbas, Sadabadi, Saeid, Behjati, Farkhondeh
Τόπος έκδοσης Int J Mol Cell Med (2016)

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies

ανά 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
Τόπος έκδοσης Cell J (2019)

Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic M...

ανά Behjati, Farkhondeh, Ghasemi Firouzabadi, Saghar, Sajedi, Firoozeh, Kahrizi, Kimia, Najafi, Mostafa, Ebrahimizade Ghasemlou, Behruz, Shafeghati, Yousef, Behnia, Fatemeh, Mohammadi Arya, Ali Reza, Karimi, Hossein, Hadipour, Fatemeh, Hadipour, Zahra, Jamali, Peyman, Kariminejad, Roxana, Darvish, Hossein, Bahman, Ideh, Bagherizadeh, Eiman, Najmabadi, Hossein, Vameghi, Roshanak
Έκδοση 2013

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

ανά Husain, Ralf A., Grimmel, Mona, Wagner, Matias, Hennings, J. Christopher, Marx, Christian, Feichtinger, René G., Saadi, Abdelkrim, Rostásy, Kevin, Radelfahr, Florentine, Bevot, Andrea, Döbler-Neumann, Marion, Hartmann, Hans, Colleaux, Laurence, Cordts, Isabell, Kobeleva, Xenia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Besse, Arnaud, Ng, Andy Cheuk-Him, Chiang, Diana, Bolduc, Francois, Tafakhori, Abbas, Mane, Shrikant, Ghasemi Firouzabadi, Saghar, Huebner, Antje K., Buchert, Rebecca, Beck-Woedl, Stefanie, Müller, Amelie J., Laugwitz, Lucia, Nägele, Thomas, Wang, Zhao-Qi, Strom, Tim M., Sturm, Marc, Meitinger, Thomas, Klockgether, Thomas, Riess, Olaf, Klopstock, Thomas, Brandl, Ulrich, Hübner, Christian A., Deschauer, Marcus, Mayr, Johannes A., Bonnen, Penelope E., Krägeloh-Mann, Ingeborg, Wortmann, Saskia B., Haack, Tobias B.
Τόπος έκδοσης Am J Hum Genet (2020)

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

ανά Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan
Τόπος έκδοσης Brain (2021)