Ngā hua rapu - Masoud Garshasbi

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  1. 1
    The genetic landscape and possible therapeutics of neurofibromatosis type 2

    The genetic landscape and possible therapeutics of neurofibromatosis type 2 mā Mohammad Amin Ghalavand, Alimohamad Asghari, Mohammad Farhadi, Farzad Taghizadeh‐Hesary, Masoud Garshasbi, Masoumeh Falah

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  2. 2
    Non-Coding RNAs in Cartilage Development: An Updated Review

    Non-Coding RNAs in Cartilage Development: An Updated Review mā Ehsan Razmara, Amirreza Bitaraf, Hassan Yousefi, Tina H. Nguyen, Masoud Garshasbi, William C. Cho, Sadegh Babashah

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  3. 3
    A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

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

    I whakaputaina 2008
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

    CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait mā Seval Türkmen, Gao Guo, Masoud Garshasbi, Katrin Hoffmann, Amjad J. Alshalah, Claudia Mischung, Andreas W. Kuß, Nicholas Humphrey, Stefan Mundlos, Peter N. Robinson

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    <i>PTRHD1</i>(C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism

    <i>PTRHD1</i>(C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism mā Hamidreza Khodadadi, Luís Azcona, Vajiheh Aghamollaii, Mir Davood Omrani, Masoud Garshasbi, Shaghayegh Taghavi, Abbas Tafakhori, Gholam Ali Shahidi, Javad Jamshidi, Hossein Darvish, Coro Paisán‐Ruiz

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

    Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 mā Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Reinhard Ullmann, Wei Chen, H-Hilger Ropers, Andreas W. Kuß, Hossein Najmabadi, Andreas Tzschach

    I whakaputaina 2010
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

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

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

    ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions mā Hao Hu, Katinka Eggers, Wei Chen, Masoud Garshasbi, M. Mahdi Motazacker, Klaus Wrogemann, Kimia Kahrizi, Andreas Tzschach, Masoumeh Hosseini, Ideh Bahman, Tim Hucho, Martina Mühlenhoff, Rita Gerardy‐Schahn, Hossein Najmabadi, Hans‐Hilger Ropers, Andreas W. Kuß

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

    A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation mā Mohammad Mahdi Motazacker, Benjamin R. Rost, Tim Hucho, Masoud Garshasbi, Kimia Kahrizi, Reinhard Ullmann, Seyedeh Sedigheh Abedini, Sahar Esmaeeli Nieh, Saeid Hosseini Amini, Chandan Goswami, Andreas Tzschach, Lars Riff Jensen, Dietmar Schmitz, Hans Hilger Ropers, Hossein Najmabadi, Andreas W. Kuß

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis

    Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis mā Bernd Timmermann, Martin Kerick, Christina Roehr, Axel Fischer, Melanie Isau, Stefan Boerno, Andrea Wunderlich, Christian Barmeyer, Petra Seemann, Jana Koenig, Michael Lappé, Andreas W. Kuß, Masoud Garshasbi, Lars Bertram, Kathrin Trappe, Martin Werber, Bernhard G. Herrmann, Kurt Zatloukal, Hans Lehrach, Michal R. Schweiger

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

    Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene mā Joanna Walczak‐Sztulpa, Jonathan Eggenschwiler, Daniel P. S. Osborn, Desmond Brown, Francesco Emma, Claus Klingenberg, Raoul C. M. Hennekam, Giuliano Torre, Masoud Garshasbi, Andreas Tzschach, Małgorzata Szczepańska, Marian Krawczyński, Jacek Zachwieja, Danuta Zwołińska, Philip L. Beales, Hans‐Hilger Ropers, Anna Latos‐Bieleńska, Andreas W. Kuß

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

    Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability mā Lia Abbasi‐Moheb, Sara Mertel, Melanie Gonsior, Leyla Nouri-Vahid, Kimia Kahrizi, Sebahattin Çirak, Dagmar Wieczorek, Mohammad Mahdi Motazacker, Sahar Esmaeeli-Nieh, Kirsten Cremer, Robert Weißmann, Andreas Tzschach, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Hossein Najmabadi, Hans‐Hilger Ropers, Stephan J. Sigrist, Andreas W. Kuß

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

    Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability mā Muhammad Rafiq, Andreas W. Kuß, Lucia Puettmann, Abdul Noor, Annapoorani Ramiah, Ghazanfar Ali, Hao Hu, Nadir Ali Kerio, Yong Xiang, Masoud Garshasbi, Muzammil Ahmad Khan, Gisele E. Ishak, Rosanna Weksberg, Reinhard Ullmann, Andreas Tzschach, Kimia Kahrizi, Khalid Mahmood, Farooq Naeem, Muhammad Ayub, Kelley W. Moremen, John B. Vincent, Hans Hilger Ropers, Muhammad Ansar, Hossein Najmabadi

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

    A clinical and molecular genetic study of 112 Iranian families with primary microcephaly mā Hossein Darvish, Sahar Esmaeeli-Nieh, Gholamreza Bahrami Monajemi, Marzieh Mohseni, Saghar Ghasemi-Firouzabadi, Seyedeh Sedigheh Abedini, Ideh Bahman, Payman Jamali, Sarah Azimi, Faezeh Mojahedi, A. Dehghan, Yousef Shafeghati, Aria Jankhah, Masoumeh Falah, Mohammad Javad Soltani Banavandi, Mahdi Ghani, Masoud Garshasbi, Fatemeh Rakhshani, Anoosh Naghavi, Andreas Tzschach, Heidemarie Neitzel, Hans‐Hilger Ropers, Andreas W. Kuß, Farkhondeh Behjati, Kimia Kahrizi, Hossein Najmabadi

    I whakaputaina 2010
    Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in <i>Drosophila</i> and humans

    Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in <i>Drosophila</i> and humans mā ChangHui Pak, Masoud Garshasbi, Kimia Kahrizi, Christina Groß, Luciano H. Apponi, John J. Noto, Seth M. Kelly, Sara W. Leung, Andreas Tzschach, Farkhondeh Behjati, Seyedeh Sedigheh Abedini, Marzieh Mohseni, Lars R. Jensen, Hao Hu, Brenda Huang, Sara N. Stahley, Guanglu Liu, Kathryn R. Williams, Sharon K. Burdick, Yue Feng, Subhabrata Sanyal, Gary J. Bassell, Hans‐Hilger Ropers, Hossein Najmabadi, Anita H. Corbett, Kenneth H. Moberg, Andreas W. Kuß

    I whakaputaina 2011
    Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests

    Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests mā Xing Ji, Jia Li, Yonghua Huang, Pi‐Lin Sung, Yuying Yuan, Qiang Liu, Yan Chen, Jia Ju, Yafeng Zhou, Shujia Huang, Fang Chen, Yuan Han, Wen Yuan, Cheng Fan, Qiang Zhao, Haitao Wu, Suihua Feng, Weiqiang Liu, Zhihua Li, Jingsi Chen, Min Chen, Hong Yao, Li Zeng, Tao Ma, Shushu Fan, Jinman Zhang, Kwok‐Yung Yuen, So Hin Cheng, Irene Wing Shan Chik, Nien-Tzu Liu, Jianyu Zhu, Siyuan Lin, Jérémy Do Cao, Steven Y. C. Tong, Zhiyuan Shan, Wenyan Li, Mohammad Reza Hekmat, Masoud Garshasbi, Javier Suela, Yaima de los Ángeles Hidalgo Torres, Juan C. Cigudosa, F. J. Pérez Ruiz, Laura Rodríguez, Mónica García, Janez Bernik, Eva Traven, Uršula Reš, Nataša Tul, Ching-Fong Tseng, Depeng Zhao, Luming Sun, Qiong Pan, Shen Li, Mengyao Dai, Yuying Wang, Jian Wang, Huanming Yang, Ye Yin, Tao Duan, Baosheng Zhu, Mahesh Choolani, Xin Jin, Yingwei Chen, Mao Mao

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

    Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders mā Rauan Kaiyrzhanov, Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin, Maha S. Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stéphanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A. Normand, Sabine Rudnik‐Schöneborn, Ulrich A. Schatz, Marc P. Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A. Abdul–Majeed, Maria Imdad, M.O. Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehli̇van, María Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W. Taylor, Dayana Vazquez, Annalisa Vetro, Hans R. Waterham, Mashaya Zaman, Tina A. Schrader, Wendy K. Chung, Renzo Guerrini, James R. Lupski, Joseph G. Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P. Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W. Tate, Gaurav K. Varshney, Henry Houlden, Reza Maroofian

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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