Výsledky vyhledávání - Mohammed Al‐Owain

Upřesnit hledání
  1. 1
    Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids

    Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids Autor Yuichi Yagita, Kyoko Shinohara, Yuichi Abe, Keiko Nakagawa, Mohammed Al‐Owain, Fowzan S. Alkuraya, Yukio Fujiki

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Autism Spectrum Disorder in a Child with Propionic Acidemia

    Autism Spectrum Disorder in a Child with Propionic Acidemia Autor Mohammed Al‐Owain, Namik Kaya, Hussain Al-Shamrani, Albandary AlBakheet, Alya Qari, S. Al-Muaigl, Mohammad Ghaziuddin

    Vydáno 2012
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

    Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes Autor Mohammed A. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, Hadia Hijazi, Mohammed Al‐Owain, Abdulrahman Alswaid, Fowzan S. Alkuraya

    Vydáno 2012
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

    Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation Autor Dorota Monies, Sateesh Maddirevula, Wesam Kurdi, Mohammed H. Alanazy, Hisham Alkhalidi, Mohammed Al‐Owain, Raashda A. Sulaiman, Eissa Faqeih, Ewa Goljan, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Ranad Shaheen, Stefan T. Arold, Fowzan S. Alkuraya

    Vydáno 2017
    Získat plný text Získat plný text
    Errata/Corrigenda
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

    Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly Autor Martin W. Breuss, Tipu Sultan, Kiely N. James, Rasim Özgür Rosti, Eric Scott, Damir Musaev, Bansri Furia, André Reis, Heinrich Sticht, Mohammed Al‐Owain, Fowzan S. Alkuraya, Miriam S. Reuter, Rami Abou Jamra, Christopher R. Trotta, Joseph G. Gleeson

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

    Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability Autor Francjan J. van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, Nan Shen, Danique van Vliet, Mohammed Al‐Owain, Khushnooda Ramzan, Salwa Alkhalifi, Roelineke J. Lunsing, Rebecca Heiner‐Fokkema, Anahita Rassi, Corinne Gemperle-Britschgi, Georg F. Hoffmann, Nenad Blau, Beat Thöny

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract Autor Nisha Patel, Deepti Anand, Dorota Monies, Sateesh Maddirevula, Arif O. Khan, Talal Algoufi, Mohammed Al‐Owain, Eissa Faqeih, Muneera J. Alshammari, Ahmed Qudair, Hadeel Alsharif, Fatimah Aljubran, Hessa S. Alsaif, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Haifa Alsedairy, Mohammed A. Aldahmesh, Salil A. Lachke, Fowzan S. Alkuraya

    Vydáno 2016
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

    New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations Autor Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al‐Owain, Hisham Alkhalidi, István Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, M. Kœnig, Giovanni Stévanin, Hamid Azzedine

    Vydáno 2013
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

    Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes Autor Leen Abu‐Safieh, May Alrashed, Shamsa Anazi, Hisham Alkuraya, Arif O. Khan, Mohammed Al‐Owain, Jawahir Al-Zahrani, Lama AlAbdi, Mais Hashem, Salwa Al-Tarimi, Mohammed-Adeeb Sebai, Ahmed Shamia, Mohamed D. Ray-Zack, Malik Nassan, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Saad Waheeb, Abdullah S. Al-Kharashi, Emad B. Abboud, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

    Vydáno 2012
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  10. 10
    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number Autor Wen Fan Hu, Oz Pomp, Tawfeg Ben‐Omran, Andrew Kodani, Katrin Henke, Ganeshwaran H. Mochida, Timothy W. Yu, Mollie B. Woodworth, Carine Bonnard, Grace Selva Raj, Thong Teck Tan, Hanan Hamamy, Amira Masri, Mohammad Shboul, Muna Al Saffar, Jennifer N. Partlow, Mohammed S. Al‐Dosari, Anas M. Alazami, Mohammed Al‐Owain, Fowzan S. Alkuraya, Jeremy F. Reiter, Matthew P. Harris, Bruno Reversade, Christopher A. Walsh

    Vydáno 2014
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

    Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I Autor Anne Puel, Rainer Döffinger, Angels Natividad, Maya Chrabieh, Gabriela Barcenas‐Morales, Capucine Pïcard, Aurélie Cobat, O Marie, A. Toulon, Jacinta Bustamante, Saleh Al‐Muhsen, Mohammed Al‐Owain, Peter D. Arkwright, Colm Costigan, Vivienne McConnell, Andrew J. Cant, Mario Abinun, Michel Polak, Pierre-François Bougnères, Dinakantha Kumararatne, László Maródi, Amit Nahum, Chaim M. Roifman, Stéphane Blanche, Alain Fischer, Christine Bodemer, Laurent Abel, Desa Lilić, Jean‐Laurent Casanova

    Vydáno 2010
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  12. 12
    Genetic association analysis of 77,539 genomes reveals rare disease etiologies

    Genetic association analysis of 77,539 genomes reveals rare disease etiologies Autor Daniel Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al‐Owain, Arnaud P. J. Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D. Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Østergaard, Bart Loeys, Hiroko Morisaki, Zubair M. Ahmed, Graeme M. Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro

    Vydáno 2023
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  13. 13
    Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

    Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies Autor Nisha Patel, Mohammed A. Aldahmesh, Hisham Alkuraya, Shamsa Anazi, Hadeel Alsharif, Arif O. Khan, Asma Sunker, Saleh Al-mohsen, Emad B. Abboud, Sawsan R. Nowilaty, Mohammed Al‐Owain, Hamad Alzaidan, Bandar Al‐Saud, Ali Alasmari, Ghada M. H. Abdel‐Salam, Mohamed Abouelhoda, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al‐Younes, Abeer Al‐Mostafa, Abdulelah AlIssa, Mais Hashem, Olga Buzovetsky, Yong Xiong, Dorota Monies, Nada Al Tassan, Ranad Shaheen, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

    Vydáno 2015
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  14. 14
    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies Autor Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    Vydáno 2016
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  15. 15
    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies Autor Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    Vydáno 2016
    Získat plný text
    Errata/Corrigenda
    Přidat do oblíbených
    Uloženo v:
  16. 16
    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy Autor Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici, Birgit Brandmeier, Frances J.D. Smith, Zoë Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity M. McClelland, Mohammed Al‐Owain, Stefan Koelker, Christian Koerner, Georg F. Hoffmann, Frits A. Wijburg, Amber E. ten Hoedt, R. Curtis Rogers, David K. Manchester, Rie Miyata, Masaharu Hayashi, Edith Said, Doriette Soler, Peter M. Kroisel, Christian Windpassinger, Francis Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, István Bódi, Hans-Hilmar Goebel, Caroline A. Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth

    Vydáno 2012
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  17. 17
    Characterizing the morbid genome of ciliopathies

    Characterizing the morbid genome of ciliopathies Autor Ranad Shaheen, Katarzyna Szymańska, Basudha Basu, Nisha Patel, Nour Ewida, Eissa Faqeih, Amal Al Hashem, Nada Derar, Hadeel Alsharif, Mohammed A. Aldahmesh, Anas M. Alazami, Mais Hashem, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Hisham Alkuraya, Maha Alnemer, Saeed Al Tala, Muneera Al-Husain, Heba Morsy, Mohammed Zain Seidahmed, Neama Meriki, Mohammed Al‐Owain, Saad AlShahwan, Brahim Tabarki, Mustafa A. Salih, Tariq Faquih, Mohamed El-Kalioby, Marius Ueffing, Karsten Boldt, Clare V. Logan, David Parry, Nada Al Tassan, Dorota Monies, André Mégarbané, Mohamed Abouelhoda, Anason Halees, Colin A. Johnson, Fowzan S. Alkuraya

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  18. 18
    The morbid genome of ciliopathies: an update

    The morbid genome of ciliopathies: an update Autor Hanan E. Shamseldin, Ranad Shaheen, Nour Ewida, Dalal Bubshait, Hisham Alkuraya, Elham Almardawi, Ali Howaidi, Yasser Sabr, Ebtesam Abdalla, Abdullah Alfaifi, Jameel Alghamdi, Afaf Alsagheir, Ahmed Alfares, Heba Morsy, Maged H. Hussein, Mohammad A. Al–Muhaizea, Mohammad Shagrani, Essam Al Sabban, Mustafa A. Salih, Neama Meriki, Rubina Khan, Maisoon Almugbel, Alya Qari, Maha Tulba, Mohammed Mahnashi, Khalid Alhazmi, Abrar K. Alsalamah, Sawsan R. Nowilaty, Amal Alhashem, Mais Hashem, Firdous Abdulwahab, Niema Ibrahim, Tarfa Alshidi, Eman Alobeid, Mona Alenazi, Hamad Alzaidan, Zuhair Rahbeeni, Mohammed Al‐Owain, Sameera Sogaty, Mohammed Zain Seidahmed, Fowzan S. Alkuraya

    Vydáno 2020
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  19. 19
    Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

    Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases Autor Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Mohammed Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al‐Owain, Amal Alhashem, Saeed Al Tala, Arif O. Khan, Elham Al Mardawi, Hisham Alkuraya, Eissa Faqeih, Manal Afqi, Salwa Alkhalifi, Zuhair Rahbeeni, Samya Hagos, Wijdan Al‐Ahmadi, Seba Nadeef, Sateesh Maddirevula, Khalid S.A. Khabar, Alexander Putra, Angel Angelov, Changsook Park, Ana M. Reyes-Ramos, Husen M. Umer, Ikram Ullah, Patrick Driguez, Yoshinori Fukasawa, Ming Sin Cheung, Imed‐Eddine Gallouzi, Fowzan S. Alkuraya

    Vydáno 2023
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  20. 20
    Molecular and clinical spectra of FBXL4 deficiency

    Molecular and clinical spectra of FBXL4 deficiency Autor Ayman W. El‐Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa Faqeih, Ali Al Asmari, Mohammed A. Saleh, Mohammed Elamin, Majid Alfadhel, Fowzan S. Alkuraya, Mais Hashem, Mazhor Aldosary, Rawan Almass, Faten Almutairi, Maysoon Alsagob, Mohammed Al‐Owain, Shirin Al-Sharfa, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Mohammad A. Al–Muhaizea, Nawal Makhseed, Gretchen Kissel Foskett, David A. Stevenson, Natalia Gomez‐Ospina, Chung Lee, Richard G. Boles, Samantha A. Schrier Vergano, Saskia B. Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F. Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes A. Mayr, Wenyaw Chan, Namik Kaya, Lee‐Jun C. Wong

    Vydáno 2017
    Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: