Search Results - Sadat Mahdavi, Shokouh

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    Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

    Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population by 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

    Published in Npj genomic medicine
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  2. 2
    First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants

    First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants by Reshadmanesh, Azadeh, Dehdahsi, Shima, Ahangari, Fatemeh, Kahrizi, Kimia, Kariminejad, Ariana, Mahdavi, Shokouh Sadat, Talebi, Saeed, Najmabadi, Hossein

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  3. 3
    Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

    Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families by 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

    Published in Clinical genetics
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  4. 4
    P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders

    P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders by 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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