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收藏OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
Majmundar, Amar J.; Widmeier, Eugen; Heneghan, John F.; Daga, Ankana; Majmundar, Chen-Han Wilfred; Buerger, Florian; Heneghan, Hannah; Ullah, Ihsan; Amar, Ali; Ottlewski, Isabel; Braun, Daniela A.; Jobst-Schwan, Tilman; Lawson, Jennifer A.; Zahoor, Muhammad Yasir; Rodig, Nancy M.; Tasic, Velibor; Nelson, Caleb P.; Khaliq, Shagufta; Schoenauer, Ria; Halbritter, Jan; Sayer, John A.; Fathy, Hanan M.; Baum, Michelle A.; Shril, Shirlee; Mane, Shrikant; Alper, Seth L.; Hildebrandt, Friedhelm
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收藏Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis
Amar, Ali; Majmundar, Amar J.; Ullah, Ihsan; Afzal, Ayesha; Braun, Daniela A.; Shril, Shirlee; Daga, Ankana; Jobst-Schwan, Tilman; Ahmad, Mumtaz; Sayer, John A.; Gee, Heon Yung; Halbritter, Jan; Knopfel, Thomas; Hernando, Nati; Werner, Andreas; Wagner, Carsten; Khaliq, Shagufta; Hildebrandt, Friedhelm
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收藏Like sugar in milk: reconstructing the genetic history of the Parsi population像牛奶中的糖一样: 重建帕西人的遗传历史
Chaubey, Gyaneshwer; Ayub, Qasim; Rai, Niraj; Prakash, Satya; Mushrif-Tripathy, Veena; Mezzavilla, Massimo; Pathak, Ajai Kumar; Tamang, Rakesh; Firasat, Sadaf; Reidla, Maere; Karmin, Monika; Rani, Deepa Selvi; Reddy, Alla G.; Parik, Juri; Metspalu, Ene; Rootsi, Siiri; Dalal, Kurush; Khaliq, Shagufta; Mehdi, Syed Qasim; Singh, Lalji; Metspalu, Mait; Kivisild, Toomas; Tyler-Smith, Chris; Villems, Richard; Thangaraj, Kumarasamy
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收藏The Kalash Genetic Isolate: Ancient Divergence, Drift, and Selection
Ayub, Qasim; Mezzavilla, Massimo; Pagani, Luca; Haber, Marc; Mohyuddin, Aisha; Khaliq, Shagufta; Mehdi, Syed Qasim; Tyler-Smith, Chris
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收藏ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous
Prasov, Lev; Masud, Tehmina; Khaliq, Shagufta; Mehdi, S. Qasim; Abid, Aiysha; Oliver, Edward R.; Silva, Eduardo D.; Lewanda, Amy; Brodsky, Michael C.; Borchert, Mark; Kelberman, Daniel; Sowden, Jane C.; Dattani, Mehul T.; Glaser, Tom
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收藏Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and western Asia
Li, Hui; Mukherjee, Namita; Soundararajan, Usha; Tarnok, Zsanett; Barta, Csaba; Khaliq, Shagufta; Mohyuddin, Aisha; Kajuna, Sylvester L. B.; Mehdi, S. Qasim; Kidd, Judith R.; Kidd, Kenneth K.
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收藏Locus heterogeneity in autosomal recessive congenital cataracts:: linkage to 9q and germline HSF4 mutations常染色体隐性先天性白内障的基因座异质性: 与9q和种系HSF4突变的联系
Forshew, T; Johnson, CA; Khaliq, S; Pasha, S; Willis, C; Abbasi, R; Tee, L; Smith, U; Trembath, RC; Mehdi, SQ; Moore, AT; Maher, ER
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