Hasil Pencarian - Ehsan Ghayoor Karimiani

Perbaiki Hasil
  1. 1
    Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report

    Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report oleh Mohammad Moein Vakilzadeh, Najmeh Ahangari, Ehsan Ghayoor Karimiani, Mehran Beiraghi Toosi

    Diterbitkan 2021-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Limb-girdle muscular dystrophy type 2B (LGMD2B) caused by pathogenic splice and missense variants of DYSF gene among Iranians with muscular dystrophy

    Limb-girdle muscular dystrophy type 2B (LGMD2B) caused by pathogenic splice and missense variants of DYSF gene among Iranians with muscular dystrophy oleh Fatemeh Arab, Najmeh Ahangari, Hadis Malek, Mohammad Doosti, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

    A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East oleh Maryam Najafi, Maryam Najafi, Dor Mohammad Kordi Tamandani, Anoush Azarfar, Zeineb Bakey, Zeineb Bakey, Farkhondeh Behjati, Dinu Antony, Dinu Antony, Isabel Schüle, Simin Sadeghi-Bojd, Ehsan Ghayoor Karimiani, Ehsan Ghayoor Karimiani, Miriam Schmidts, Miriam Schmidts

    Diterbitkan 2019-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    Chromogenic in situ Hybridization Compared with Real Time Quantitative Polymerase Chain Reaction to Evaluate HER2/neu Status in Breast Cancer

    Chromogenic in situ Hybridization Compared with Real Time Quantitative Polymerase Chain Reaction to Evaluate HER2/neu Status in Breast Cancer oleh Hossein Ayatollahi, Azar Fani, Ehsan Ghayoor Karimiani, Fateme Homaee, Arezoo Shajiei, Maryam Sheikh, Sepideh Shakeri, Seyyede Fatemeh Shams

    Diterbitkan 2017-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Evaluation of the Methylation Status of the MEIS1 Promoter Gene in Colorectal Cancer

    Evaluation of the Methylation Status of the MEIS1 Promoter Gene in Colorectal Cancer oleh Narjes Soltani, Ehsan Ghayoor Karimiani, Mohammadreza Farzanehfar, Baratali Mashkani, Amirhossein Jafarian, Hami Ashraf, Arash Akhavan Rezyat, Mohammad Soukhtanloo

    Diterbitkan 2016-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Expression of IL-17 and COX2 Gene in Peripheral Blood Leukocytes of Vitiligo Patients

    Expression of IL-17 and COX2 Gene in Peripheral Blood Leukocytes of Vitiligo Patients oleh Behnaz Esmaeili, Seyed Abdol Rahim Rezaee, Pouran Layegh, Jalil Tavakkol Afshari, Phil Dye, Ehsan Ghayoor Karimiani, Fatemeh Kalalinia, Houshang Rafatpanah

    Diterbitkan 2011-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

    Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis oleh Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts

    Diterbitkan 2019-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Association of the Expression of IL-4 and IL-13 Genes, IL-4 and IgE Serum Levels with Allergic Asthma

    Association of the Expression of IL-4 and IL-13 Genes, IL-4 and IgE Serum Levels with Allergic Asthma oleh Jalil Tavakkol Afshari, Reza Farid Hosseini, Sara Hosseini Farahabadi, Farhad Heydarian, Mohammad Hossein Boskabady, Rasoul Khoshnavaz, Alireza Razavi, Ehsan Ghayoor Karimiani, Gholamreza Ghasemi

    Diterbitkan 2007-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report

    Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report oleh Caroline Lekszas, Indrajit Nanda, Barbara Vona, Julia Böck, Farah Ashrafzadeh, Nahid Donyadideh, Farnoosh Ebrahimzadeh, Najmeh Ahangari, Reza Maroofian, Ehsan Ghayoor Karimiani, Thomas Haaf

    Diterbitkan 2019-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Absence of Helicobacter pylori infection in coronary atherosclerosis disease in Northeast of Iran

    Absence of Helicobacter pylori infection in coronary atherosclerosis disease in Northeast of Iran oleh Mohammad Hadi Sadeghian, Seyed Abbas Tabatabaee Yazdi, Hossein Ayatollahi, Kiarash Ghazvini, Mohammad Reza Keramati, Ehsan Ghayoor Karimiani, Maryam Sheikhi, Somaye Vakili Ahrarirodi, Ghohar Shaghayegh

    Diterbitkan 2013-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study

    ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study oleh Najmeh Ahangari, Nazanin Gholampour‐Faroji, Mohammad Doosti, Majid Ghayour Mobarhan, Sima Shahrokhzadeh, Ehsan Ghayoor Karimiani, Bahareh Hasani‐sabzevar, Paria Najarzadeh Torbati, Aliakbar Haddad‐Mashadrizeh

    Diterbitkan 2023-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases

    High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases oleh Maryam Najafi, Maryam Najafi, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Aboulfazl Rad, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Anna Köttgen, Rolf Backofen, Rolf Backofen, Ehsan Ghayoor Karimiani, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts

    Diterbitkan 2022-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

    Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome oleh Aboulfazl Rad, Maryam Najafi, Fatemeh Suri, Soheila Abedini, Stephen Loum, Ehsan Ghayoor Karimiani, Narsis Daftarian, David Murphy, Mohammad Doosti, Afrooz Moghaddasi, Hamid Ahmadieh, Hamideh Sabbaghi, Mohsen Rajati, Narges Hashemi, Barbara Vona, Miriam Schmidts

    Diterbitkan 2022-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

    Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome oleh Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M. Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke

    Diterbitkan 2024-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

    PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy oleh Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth A. Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi, Ehsan Ghayoor Karimiani, Narges Hashemi, Mirna Souaid, Sandra Sabbagh, Paria Najarzadeh Torbati, Suliman Khan, Emmanuel Roze, Andres Moreno‐De‐Luca, Aida M. Bertoli‐Avella, Henry Houlden, Tamas Balla, Reza Maroofian

    Diterbitkan 2022-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    Expanding the clinical phenotype of IARS2-related mitochondrial disease

    Expanding the clinical phenotype of IARS2-related mitochondrial disease oleh Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani

    Diterbitkan 2018-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  17. 17
    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects oleh Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mihci, Christopher T. Gordon, Elisabeth Steichen-Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte-Dijkstra, Albertien M. van Eerde, Koen L. van Gassen, Corstiaan C. Breugem, Alexander Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Munnich, Dulce Papy-Garcia, Muriel De La Dure-Molla, Valérie Cormier-Daire

    Diterbitkan 2018-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  18. 18
    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia oleh Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle

    Diterbitkan 2019-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  19. 19
    Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

    Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders oleh Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro

    Diterbitkan 2022-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  20. 20
    Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

    Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity oleh Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney

    Diterbitkan 2023-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: