Αποτελέσματα αναζήτησης - Wee Teik Keng

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Περιορισμός αποτελεσμάτων
  1. 1
    Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature

    Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature από Hui Bein Chew, Lock Hock Ngu, Wee Teik Keng

    Έκδοση 2011
    Λήψη πλήρους κειμένου
    Revisão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  2. 2
    Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

    Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome από Kathleen A. Williamson, Ann Hever, Joe Rainger, R. Curtis Rogers, Alex Magee, Z Fiedler, Wee Teik Keng, Freddie H. Sharkey, Niolette I. McGill, Clare J. Hill, Adele Schneider, Mario Messina, Peter D. Turnpenny, Judy Fantes, Veronica van Heyningen, David Fitzpatrick

    Έκδοση 2006
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  3. 3
    Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

    Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations από Mariëlle Alders, Antonella Mendola, Lesley C. Adès, Lihadh Al Gazali, Carlo Bellini, Bruno Dallapiccola, Patrick Edery, Ulrich Frank, F. Hornshuh, Sanne Huisman, Sujatha Jagadeesh, Hülya Kayserili, Wee Teik Keng, Dorit Lev, Carlos E. Prada, J Sampson, J. Schmidtke, Vandana Shashi, Yolande van Bever, Nathalie Van der Aa, Judith M.A. Verhagen, Johanna B. G. M. Verheij, Miikka Vikkula, Raoul C. M. Hennekam

    Έκδοση 2012
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  4. 4
    Synergistic use of glycomics and single‐molecule molecular inversion probes for <scp>identification</scp> of congenital disorders of glycosylation type‐1

    Synergistic use of glycomics and single‐molecule molecular inversion probes for <scp>identification</scp> of congenital disorders of glycosylation type‐1 από Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, Roel Smeets, Marjan Kersten, Karin Huijben, Wee Teik Keng, Carlos E. Speck‐Martins, Daniel R. Carvalho, Isabela M. P. O. Rizzo, Walquiria Domingues de Mello, Rebecca Heiner‐Fokkema, Kathleen M. Gorman, Stephanie Grünewald, Helen Michelakakis, Marina Moraitou, Diego Martinelli, Monique van Scherpenzeel, Mirian C. H. Janssen, Lonneke de Boer, Lambertus P. van den Heuvel, Christian Thiel, Dirk J. Lefeber

    Έκδοση 2022
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  5. 5
    FAT1 mutations cause a glomerulotubular nephropathy

    FAT1 mutations cause a glomerulotubular nephropathy από Heon Yung Gee, Carolin E. Sadowski, Pardeep Aggarwal, Jonathan D. Porath, Toma A. Yakulov, Markus Schueler, Svjetlana Lovric, Shazia Ashraf, Daniela A. Braun, Jan Halbritter, Humphrey Fang, Rannar Airik, Virginia Vega-Warner, Kyeong Jee Cho, Timothy A. Chan, Luc G.T. Morris, Charles ffrench‐Constant, Nicholas D. Allen, Helen McNeill, Rainer Büscher, Henriette Kyrieleis, Michael Wallot, Ariana Gaspert, Thomas Kistler, David V. Milford, Moin A. Saleem, Wee Teik Keng, Stephen I. Alexander, Rudolph P. Valentini, Christoph Licht, Jun Chuan Teh, Radovan Bogdanović, Ania Koziell, Agnieszka Bierżyńska, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Lawrence B. Holzman, Nicholas E. S. Sibinga, Gerd Walz, Alda Tufró, Friedhelm Hildebrandt

    Έκδοση 2016
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  6. 6
    Expanding the phenome and variome of skeletal dysplasia

    Expanding the phenome and variome of skeletal dysplasia από Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Hanan E. Shamseldin, Shams Anazi, Nour Ewida, Hessa S. Alsaif, Jawahir Y. Mohamed, Anas M. Alazami, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Muneera J. Alshammari, Afaf Alsagheir, Mohammed Zain Seidahmed, Samira Sogati, Mona Aglan, Muddathir H. Hamad, Mustafa A. Salih, Ahlam A. Hamed, Nadia Alhashmi, Amira Nabil, Fatima Alfadli, Ghada M. H. Abdel‐Salam, Hisham Alkuraya, Winnie Ong Peitee, Wee Teik Keng, Abdullah Qasem, Aziza Mushiba, Maha S. Zaki, Mahmoud R. Fassad, Majid Alfadhel, Saji Alexander, Yasser Sabr, Samia A. Temtamy, Alka V. Ekbote, Samira Ismail, Gamal Ahmed Hosny, Ghada A. Otaify, Khalda Amr, Saeed Al Tala, Arif O. Khan, Tamer Rizk, Aida I. Al‐Aqeel, Abdulmonem Alsiddiky, Ankur Singh, Seema Kapoor, Amal Alhashem, Eissa Faqeih, Ranad Shaheen, Fowzan S. Alkuraya

    Έκδοση 2018
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:

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