Search Results - Michael J Bamshad

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases by Javier A Muntadas, Martin R Hyland, Maria Del Rosario Ortolá Martínez, Jaime N Young, Jessica X Chong, Michael J Bamshad, Ricardo A. Maselli

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Correction to: Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares by Alice S. Chau, Bonnie L. Cole, Jason S. Debley, Kabita Nanda, Aaron B. I. Rosen, Michael J. Bamshad, Deborah A. Nickerson, Troy R. Torgerson, Eric J. Allenspach

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Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares by Alice S. Chau, Bonnie L. Cole, Jason S. Debley, Kabita Nanda, Aaron B. I. Rosen, Michael J. Bamshad, Deborah A. Nickerson, Troy R. Torgerson, Eric J. Allenspach

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Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment by Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal

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PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation by Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger

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