檢索結果 - Dehghani, Mohammadreza
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The effect of regular resistance exercise, vitamin D, and calcium supplements on the gastrocnemius muscle in rats in the post-menopausal period: An experimental study 由 Sisi, Seyedeh Zahra Hosseini, Azarbayjani, Mohammad Ali, Vafaeenasab, Mohammadreza, Peeri, Maghsoud, Dehghani, Mohammadreza
出版 2021Text -
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Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families 由 Moudi, Mahdiyeh, Vahidi Mehrjardi, Mohammad Yahya, Hozhabri, Hossein, Metanat, Zahra, Kalantar, Seyed Mehdi, Taheri, Mohsen, Ghasemi, Nasrin, Dehghani, Mohammadreza
出版 2022Text -
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A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report 由 DEHGHAN TEZERJANI, Masoud, MAROOFIAN, Reza, VAHIDI MEHRJARDI, Mohammad Yahya, CHIOZA, Barry A., ZAMANINEJAD, Shiva, KALANTAR, Seyed Mehdi, NORI-SHADKAM, Mahmoud, GHADIMI, Hamidreza, BAPLE, Emma L., CROSBY, Andrew H., DEHGHANI, Mohammadreza
出版 2016Text -
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 由 Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D., Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou
出版 2020Text -
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Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder 由 Alves, Maria M, Halim, Danny, Maroofian, Reza, de Graaf, Bianca M, Rooman, Raoul, van der Werf, Christine S, Van de Vijver, Els, Mehrjardi, Mohammad YV, Aflatoonian, Majid, Chioza, Barry A, Baple, Emma L, Dehghani, Mohammadreza, Crosby, Andrew H, Hofstra, Robert MW
出版 2016Text -
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Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum 由 Kaiyrzhanov, Rauan, Wortmann, Saskia, Reid, Taryn, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Alhaddad, Bader, Wagner, Matias, Deschauer, Marcus, Cordts, Isabell, Fernandez-Murray, J Pedro, Treffer, Veronika, Metanat, Zahra, Pittman, Alan, Houlden, Henry, Meitinger, Thomas, Carroll, Christopher, McMaster, Christopher R, Maroofian, Reza
出版 2021Text -
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Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration 由 Muto, Valentina, Flex, Elisabetta, Kupchinsky, Zachary, Primiano, Guido, Galehdari, Hamid, Dehghani, Mohammadreza, Cecchetti, Serena, Carpentieri, Giovanna, Rizza, Teresa, Mazaheri, Neda, Sedaghat, Alireza, Vahidi Mehrjardi, Mohammad Yahya, Traversa, Alice, Di Nottia, Michela, Kousi, Maria M., Jamshidi, Yalda, Ciolfi, Andrea, Caputo, Viviana, Malamiri, Reza Azizi, Pantaleoni, Francesca, Martinelli, Simone, Jeffries, Aaron R., Zeighami, Jawaher, Sherafat, Amir, Di Giuda, Daniela, Shariati, Gholam Reza, Carrozzo, Rosalba, Katsanis, Nicholas, Maroofian, Reza, Servidei, Serenella, Tartaglia, Marco
出版 2018Text -
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Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy 由 McMillan, Hugh J., Telegrafi, Aida, Singleton, Amanda, Cho, Megan T., Lelli, Daniel, Lynn, Francis C., Griffin, Julie, Asamoah, Alexander, Rinne, Tuula, Erasmus, Corrie E., Koolen, David A., Haaxma, Charlotte A., Keren, Boris, Doummar, Diane, Mignot, Cyril, Thompson, Islay, Velsher, Lea, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Tchan, Michel, Simons, Cas, Christodoulou, John, Martín-Hernández, Elena, Guillen Sacoto, Maria J., Henderson, Lindsay B., McLaughlin, Heather, Molday, Laurie L., Molday, Robert S., Yoon, Grace
出版 2018Text -
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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder 由 Hengel, Holger, Hannan, Shabab B., Dyack, Sarah, MacKay, Sara B., Schatz, Ulrich, Fleger, Martin, Kurringer, Andreas, Balousha, Ghassan, Ghanim, Zaid, Alkuraya, Fowzan S., Alzaidan, Hamad, Alsaif, Hessa S., Mitani, Tadahiro, Bozdogan, Sevcan, Pehlivan, Davut, Lupski, James R., Gleeson, Joseph J., Dehghani, Mohammadreza, Mehrjardi, Mohammad Y.V., Sherr, Elliott H., Parks, Kendall C., Argilli, Emanuela, Begtrup, Amber, Galehdari, Hamid, Balousha, Osama, Shariati, Gholamreza, Mazaheri, Neda, Malamiri, Reza A., Pagnamenta, Alistair T., Kingston, Helen, Banka, Siddharth, Jackson, Adam, Osmond, Mathew, Rieß, Angelika, Haack, Tobias B., Nägele, Thomas, Schuster, Stefanie, Hauser, Stefan, Admard, Jakob, Casadei, Nicolas, Velic, Ana, Macek, Boris, Ossowski, Stephan, Houlden, Henry, Maroofian, Reza, Schöls, Ludger
出版 2021Text -
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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder 由 Dias, Caroline M., Punetha, Jaya, Zheng, Céline, Mazaheri, Neda, Rad, Abolfazl, Efthymiou, Stephanie, Petersen, Andrea, Dehghani, Mohammadreza, Pehlivan, Davut, Partlow, Jennifer N., Posey, Jennifer E., Salpietro, Vincenzo, Gezdirici, Alper, Malamiri, Reza Azizi, Al Menabawy, Nihal M., Selim, Laila A., Vahidi Mehrjardi, Mohammad Yahya, Banu, Selina, Polla, Daniel L., Yang, Edward, Rezazadeh Varaghchi, Jamileh, Mitani, Tadahiro, van Beusekom, Ellen, Najafi, Maryam, Sedaghat, Alireza, Keller-Ramey, Jennifer, Durham, Leslie, Coban-Akdemir, Zeynep, Karaca, Ender, Orlova, Valeria, Schaeken, Lieke L.M., Sherafat, Amir, Jhangiani, Shalini N., Stanley, Valentina, Shariati, Gholamreza, Galehdari, Hamid, Gleeson, Joseph G., Walsh, Christopher A., Lupski, James R., Seiradake, Elena, Houlden, Henry, van Bokhoven, Hans, Maroofian, Reza
出版 2019Text