Risultati della ricerca - Hossein Najmabadi

Raffina i risultati
  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 di Robert C. Wilson, Saroj Nimkarn, M Dumić, Jihad S. Obeid, Maryam Razzghy Azar, Hossein Najmabadi, Fatemeh Saffari, Maria I. New

    Pubblicazione 2007
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  2. 2
    Exonic mutations and exon skipping: Lessons learned from <i>DFNA5</i>

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

    Pubblicazione 2017
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Mahdieh Pashaei, Mohammad Masoud Rahimi Bidgoli, Davood Zare‐Abdollahi, Hossein Najmabadi, Ramona Haji‐Seyed‐Javadi, Farzad Fatehi, Afagh Alavi

    Pubblicazione 2020
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  4. 4
    Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

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

    Pubblicazione 2009
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  5. 5
    Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

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

    Pubblicazione 2006
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana Kariminejad, Farkhondeh Behjati, Andreas Tzschach, Hossein Najmabadi, Hans Hilger Ropers, Andreas W. Kuß

    Pubblicazione 2008
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Behzad Davarniya, Hao Hu, Kimia Kahrizi, Luciana Musante, Zohreh Fattahi, Masoumeh Hosseini, Fariba Maqsoud, Reza Farajollahi, Thomas F. Wienker, Hans‐Hilger Ropers, Hossein Najmabadi

    Pubblicazione 2015
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2007
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  9. 9
    Genetic male infertility and mutation of CATSPER ion channels

    Genetic male infertility and mutation of CATSPER ion channels di 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

    Pubblicazione 2010
    Testo Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2012
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2017
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2010
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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... di 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

    Pubblicazione 1996
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  14. 14
    Variants in <i>CIB2</i> cause DFNB48 and not USH1J

    Variants in <i>CIB2</i> cause DFNB48 and not USH1J di 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

    Pubblicazione 2017
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2011
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2012
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  17. 17
    <i>PDZD7</i> and hearing loss: More than just a modifier

    <i>PDZD7</i> and hearing loss: More than just a modifier di 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

    Pubblicazione 2015
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2017
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  19. 19
    ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

    ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions di 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

    Pubblicazione 2011
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2009
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:

Strumenti per la ricerca: