Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco–Sjögren syndrome patients von Faheem, Ali, Masud, Rizwan, Nasir, Rabea, Awan, Zeeshan Khalid, Nasir, Hammad Ali, Khan, Zara Khalid, Fayyaz, Hajra, Raza, Syed Irfan

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Whole exome sequencing reveals a missense mutation in the ADA gene causing severe combined immune deficiency in a Pakistani family ADA gene mutation causing SCID von Zara Khalid Khan, Sadaf Jafar, Sheeba Shabbir, Muhammad Zeeshan Anwar, Rabea Nasir, Attea Zaman, Momin Iqbal, Syed Irfan Raza

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RELATIONSHIP BETWEEN HYPOGONADISM AND SERUM TESTOSTERONE LEVELS IN CHRONIC LIVER DISEASE von Kashaf, Khalil, Anas, Fatima, Sabahat, Kiran, Khadija, Javaid, Sana, Nasir, Rabea, Tahir, Farah Naz

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INTEGRIN BETA2 GENE VARIANT CAUSING LEUKOCYTE ADHESION DEFICIENCY TYPE 1 IN A PAKISTANI FAMILY von Nasir, Rabea, Shabbir, Sheeba, Siddique, Lubna, Awais, Shahida, Khalid, Zara, Zahoor, Ambreen, Azeem, Zahid, Majeed, Farzana

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