Rezultati pretrage - Fatma Al‐Jasmi

  • Prikaz rezultata 1 – 9 od 9
Detaljiziraj rezultate
  1. 1
    Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies

    Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies od Feda E. Mohamed, Fatma Al‐Jasmi

    Izdano 2024
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  2. 2
    Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

    Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates od Aisha Al‐Shamsi, Jozef Hertecant, Abdul‐Kader Souid, Fatma Al‐Jasmi

    Izdano 2016
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  3. 3
    Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises

    Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises od Fedah E. Mohamed, Lihadh Al‐Gazali, Fatma Al‐Jasmi, Bassam R. Ali

    Izdano 2017
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  4. 4
    Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

    Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates od Fatma Al‐Jasmi, Nafisa Tawfig, Ans Berniah, Bassam R. Ali, Mahmoud Taleb, Jozef Hertecant, Fatma Bastaki, Abdul‐Kader Souid

    Izdano 2012
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  5. 5
    Artificial intelligence and database for NGS-based diagnosis in rare disease

    Artificial intelligence and database for NGS-based diagnosis in rare disease od Yee Wen Choon, Yee Fan Choon, Nurul Athirah Nasarudin, Fatma Al Jasmi, Muhamad Akmal Remli, Mohammed Hassan Alkayali, Mohd Saberi Mohamad

    Izdano 2024
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  6. 6
    Guidelines for acute management of hyperammonemia in the Middle East region

    Guidelines for acute management of hyperammonemia in the Middle East region od Majid Alfadhel, Fuad Al Mutairi, Nawal Makhseed, Fatma Al Jasmi, Khalid Al‐Thihli, Emtithal Aljishi, Moeen Al-Sayed, Zuhair N. Al‐Hassnan, Fathiya Al Murshedi, Johannes Häberle, Tawfeg Ben‐Omran

    Izdano 2016
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  7. 7
    Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

    Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies od Lance H. Rodan, Marissa Hauptman, Alissa M. D’Gama, Anita Qualls, Siqi Cao, Karin Tuschl, Fatma Al‐Jasmi, Jozef Hertecant, Susan J. Hayflick, Marianne Wessling‐Resnick, Edward Yang, Gerard T. Berry, Andrea Gropman, Alan D. Woolf, Pankaj B. Agrawal

    Izdano 2018
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  8. 8
    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations

    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations od Martina Huemer, Daniela Karall, Anna Schossig, José E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi‐Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles Marques Lourenço, Sabine Scholl‐Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland

    Izdano 2015
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  9. 9
    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families od Periklis Makrythanasis, Mari Nelis, Federico Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia A. Temtamy, André Mégarbané, Amira Masri, Mona Aglan, Maha S. Zaki, Armand Bottani, Siv Fokstuen, Lorraine Gwanmesia, Konstantinos A. Aliferis, Mariana Bustamante Eduardo, Georgios Stamoulis, Stavroula Psoni, Sofia Kitsiou‐Tzeli, Helen Fryssira, Emmanouil Kanavakis, Nasir Al‐Allawi, Abdelaziz Sefiani, Sana' A. S. Al Hait, Siham Chafai Elalaoui, Nadine Jalkh, Lihadh Al‐Gazali, Fatma Al‐Jasmi, Habiba Chaabouni Bouhamed, Ebtesam Abdalla, D.N. Cooper, Hanan Hamamy, Stylianos E. Antonarakis

    Izdano 2014
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