Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Meera Malik"'
Autor:
J. Christopher Hennings, Yoshinao Wada, Christian A. Hübner, Ingo Kurth, Thorsten Marquardt, Christine Coubes, Dieter Vanderschaeghe, Kwame Anyane-Yeboa, Dusica Babovic-Vuksanovic, Emile Van Schaftingen, Reinhard Mühlenberg, Pierre Sarda, Christian Beetz, Antje K. Huebner, Alma Sikiric, Janine Altmüller, Rizwan Mumtaz, Jürgen Brämswig, Avraham Zeharia, Ammi Grahn, Peter Nürnberg, Arsalan Ahmad, Meera Malik, Guntram Borck, Saqib Mahmood, Katrin Koehler, Holger Thiele, Sebastian Gießelmann, Gudrun Nürnberg, Angela Huebner, Janine Reunert, Lina Basel-Vanagaite
Publikováno v:
The American Journal of Human Genetics. 93:727-734
In guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA), we identified a homozygous nonsense mutation that segregated with achalasia and alacrima, delayed developmental milestones, and gait abnormalities in a consanguineous Pakistani pedig
Autor:
Waqas Ahmed, Ahmed Sadeque, Amina Ali Khan, Meera Malik, Imran Saeed, Umar Kaleem, Maleeha Azam, Nuzhat Ahmed, Muhammad Ajmal, Raheel Qamar
Publikováno v:
Molecular Biology Reports. 38:2541-2548
A case–control association study on 229 Myocardial Infarction (MI) patients and 217 healthy controls was carried out to determine the role of tissue-plasminogen activator (t-PA) (Alu-repeat insertion (I)/deletion (D)) and plasminogen activator inhi