Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation von Khan, Tahir Naeem, Klar, Joakim, Tariq, Muhammad, Anjum Baig, Shehla, Malik, Naveed Altaf, Yousaf, Raja, Baig, Shahid Mahmood, Dahl, Niklas

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Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans von Klar, Joakim, Schuster, Jens, Khan, Tahir Naeem, Jameel, Muhammad, Mäbert, Katrin, Forsberg, Lars, Baig, Shehla Anjum, Baig, Shahid Mahmood, Dahl, Niklas

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β-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan von Mahmood Baig, Shahid, Sabih, Dure, Rahim, Muhammad Kashif, Azhar, Aysha, Tariq, Muhammad, Sajid Hussain, Muhammad, Saqlan Naqvi, Syed Muhammad, Raja, Ghazala Kaukab, Khan, Tahir Naeem, Jameel, Muhammad, Iram, Zahra, Noor, Samia, Baig, Usman Raza, Qureshi, Javed Anver, Baig, Shehla Anjum, Bakhtiar, Syeda Marriam

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Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis von Baig, SM, Azhar, A, Hassan, H, Baig, JM, Kiyani, A, Hameed, U, Rabbi, F, Bokhari, H, Aslam, M, Ud Din, MA, Baig, SA, Hassan, K, Qureshi, JA, Zaman, T

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Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family von Nawaz, Sadia, Tariq, Muhammad, Azhar, Aysha, Rasool, Mahmood, Bakhtiar, Syeda Marriam, Ahmad, Ilyas, ur Rehman, Shoaib, jameel, Muhammad, Khan, Tahir Naeem, Baig, Shehla Anjum, Klar, Joakim, Dahl, Niklas, Baig, Shahid Mahmood

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Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family von Nawaz, Sadia, Tariq, Muhammad, Azhar, Aysha, Rasool, Mahmood, Bakhtiar, Syeda Marriam, Ahmad, Ilyas, ur Rehman, Shoaib, Jameel, Muhammad, Khan, Tahir Naeem, Baig, Shehla Anjum, Klar, Joakim, Dahl, Niklas, Baig, Shahid Mamood

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