Výsledky vyhledávání - Hossein Najmabadi

Upřesnit hledání
  1. 1
    Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

    Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency Autor Robert C. Wilson, Saroj Nimkarn, M Dumić, Jihad S. Obeid, Maryam Razzghy Azar, Hossein Najmabadi, Fatemeh Saffari, Maria I. New

    Vydáno 2007
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Exonic mutations and exon skipping: Lessons learned from <i>DFNA5</i>

    Exonic mutations and exon skipping: Lessons learned from <i>DFNA5</i> Autor Kevin T. Booth, Héla Azaiez, Kimia Kahrizi, Donghong Wang, Yuzhou Zhang, Kathy Frees, Carla Nishimura, Hossein Najmabadi, Richard J. Smith

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia

    The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia Autor Mahdieh Pashaei, Mohammad Masoud Rahimi Bidgoli, Davood Zare‐Abdollahi, Hossein Najmabadi, Ramona Haji‐Seyed‐Javadi, Farzad Fatehi, Afagh Alavi

    Vydáno 2020
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

    Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein Autor Matthew R. Avenarius, Michael S. Hildebrand, Yuzhou Zhang, Nicole C. Meyer, Luke L. H. Smith, Kimia Kahrizi, Hossein Najmabadi, Richard J. Smith

    Vydáno 2009
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

    Sensorineural deafness and male infertility: a contiguous gene deletion syndrome Autor Y. Zhang, Mahdi Malekpour, Navid Almadani, Kimia Kahrizi, M. Zanganeh, Marzieh Mohseni, Faezeh Mojahedi, Ahmad Daneshi, Hossein Najmabadi, Richard J. Smith

    Vydáno 2006
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    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 Autor Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana Kariminejad, Farkhondeh Behjati, Andreas Tzschach, Hossein Najmabadi, Hans Hilger Ropers, Andreas W. Kuß

    Vydáno 2008
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

    The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families Autor Behzad Davarniya, Hao Hu, Kimia Kahrizi, Luciana Musante, Zohreh Fattahi, Masoumeh Hosseini, Fariba Maqsoud, Reza Farajollahi, Thomas F. Wienker, Hans‐Hilger Ropers, Hossein Najmabadi

    Vydáno 2015
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    <i>LRP6</i> Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors

    <i>LRP6</i> Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors Autor Arya Mani, Jayaram Radhakrishnan, He Wang, Alaleh Mani, Mohammad-Ali Mani, Carol Nelson‐Williams, Khary S. Carew, Shrikant Mane, Hossein Najmabadi, Dan Wu, Richard P. Lifton

    Vydáno 2007
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    Genetic male infertility and mutation of CATSPER ion channels

    Genetic male infertility and mutation of CATSPER ion channels Autor Michael S. Hildebrand, Matthew R. Avenarius, Marc Fellous, Yuzhou Zhang, Nicole C. Meyer, Jana Auer, Catherine Serres, Kimia Kahrizi, Hossein Najmabadi, J. Beckmann, Richard J. Smith

    Vydáno 2010
    Získat plný text Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  10. 10
    Hydroxyurea responsiveness in -thalassemic patients is determined by the stress response adaptation of erythroid progenitors and their differentiation propensity

    Hydroxyurea responsiveness in -thalassemic patients is determined by the stress response adaptation of erythroid progenitors and their differentiation propensity Autor Farzin Pourfarzad, Marieke von Lindern, Azita Azarkeivan, Jun Hou, Sima Kheradmand Kia, Fatemehsadat Esteghamat, Wilfred F. J. van IJcken, Sjaak Philipsen, Hossein Najmabadi, Frank Grosveld

    Vydáno 2012
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

    TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor Autor Ariana Kariminejad, Martin Dahl-Halvarsson, Gianina Ravenscroft, Fariba Afroozan, Elham Keshavarz, Hayley Goullée, Mark R. Davis, Mehrshid Faraji Zonooz, Hossein Najmabadi, Nigel G. Laing, Homa Tajsharghi

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  12. 12
    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 Autor 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

    Vydáno 2010
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  13. 13
    Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy.

    Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping st... Autor Hossein Najmabadi, Vivian Huang, P. H. Yen, Makam N. Subbarao, Dimple Bhasin, Lauren Banaag, Syed Naseeruddin, D. M. de Kretser, H.W.G. Baker, Robert I. McLachlan

    Vydáno 1996
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  14. 14
    Variants in <i>CIB2</i> cause DFNB48 and not USH1J

    Variants in <i>CIB2</i> cause DFNB48 and not USH1J Autor Kevin T. Booth, Kimia Kahrizi, Mojgan Babanejad, Hossein Daghagh, Güney Bademci, Sanaz Arzhangi, Davood Zare‐Abdollahi, Duygu Duman, A. Amraoui, Mustafa Tekin, Hossein Najmabadi, Héla Azaiez, Richard J. Smith

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  15. 15
    Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

    Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes Autor Katherine R. Smith, Catherine J. Bromhead, Michael S. Hildebrand, A. Eliot Shearer, Paul J. Lockhart, Hossein Najmabadi, Richard J. Leventer, George McGillivray, David J. Amor, Richard J. Smith, Melanie Bahlo

    Vydáno 2011
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  16. 16
    Screening for <i>MYO15A</i> gene mutations in autosomal recessive nonsyndromic, <i>GJB2</i> negative Iranian deaf population

    Screening for <i>MYO15A</i> gene mutations in autosomal recessive nonsyndromic, <i>GJB2</i> negative Iranian deaf population Autor Zohreh Fattahi, A. Eliot Shearer, Mojgan Babanejad, Niloofar Bazazzadegan, Seyed Navid Almadani, Nooshin Nikzat, Khadijeh Jalalvand, Sanaz Arzhangi, Fatemehsadat Esteghamat, Rezvan Abtahi, Batool Azadeh, Richard J. Smith, Kimia Kahrizi, Hossein Najmabadi

    Vydáno 2012
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  17. 17
    <i>PDZD7</i> and hearing loss: More than just a modifier

    <i>PDZD7</i> and hearing loss: More than just a modifier Autor Kevin T. Booth, Héla Azaiez, Kimia Kahrizi, Allen C. Simpson, William T.A. Tollefson, Christina M. Sloan, Nicole C. Meyer, Mojgan Babanejad, Fariba Ardalani, Sanaz Arzhangi, Michael J. Schnieders, Hossein Najmabadi, Richard J. Smith

    Vydáno 2015
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  18. 18
    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 Autor 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

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  19. 19
    ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

    ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions Autor 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

    Vydáno 2011
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  20. 20
    Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

    Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans Autor Nicolas Grillet, Martin Schwander, Michael S. Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer Webster, Kimia Kahrizi, Hossein Najmabadi, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Tim Wiltshire, Lisa M. Tarantino, Peter Kühn, Richard J. Smith, Ulrich Müller

    Vydáno 2009
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: