نتائج البحث - Michael Yourshaw

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  1. 1
    DNA-Based versus RNA-Based Detection of MET Exon 14 Skipping Events in Lung Cancer

    DNA-Based versus RNA-Based Detection of MET Exon 14 Skipping Events in Lung Cancer حسب Kurtis D. Davies, Aprille Lomboy, Carolyn A. Lawrence, Michael Yourshaw, Gregary T. Bocsi, D. Ross Camidge, Dara L. Aisner

    منشور في 2019
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    Artigo
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  2. 2
    Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

    Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia حسب Jijun Wan, Janos Steffen, Michael Yourshaw, Hafsa Mamsa, Erik Andersen, Sabine Rudnik–Schöneborn, Kate Pope, Katherine B. Howell, Catriona McLean, Andrew J. Kornberg, Jörg Joseph, Paul J. Lockhart, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Carla M. Koehler, Joanna C. Jen

    منشور في 2016
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    Artigo
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  3. 3
    <i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

    <i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome حسب Sagar J. Pathak, James L. Mueller, Kevin Okamoto, Barun Das, Jozef Hertecant, Lynn Greenhalgh, Trevor Cole, Vered Pinsk, Baruch Yerushalmi, Ödül Eğritaş, Michael Yourshaw, Erick Hernández, Sandy Oesterreicher, Sandhia Naik, Ian R. Sanderson, Irené Axelsson, Daniel Agardh, C. Richard Boland, Martı́n G. Martı́n, Christopher D. Putnam, Mamata Sivagnanam

    منشور في 2018
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  4. 4
    Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort

    Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort حسب Martı́n G. Martı́n, Iris Lindberg, R. Sergio Solórzano-Vargas, Jiafang Wang, Yaron Avitzur, Robert Bandsma, Christiane Sokollik, Sarah Lawrence, Lindsay A. Pickett, Zijun Chen, Ödül Eğritaş, Buket Dalgıç, Valeria Albornoz, Lissy de Ridder, Jessie M. Hulst, Faysal Gök, Ayşen Aydoğan, Abdulrahman Al‐Hussaini, Deniz Engin Gök, Michael Yourshaw, Sujuan Wu, Galen Cortina, Sara B. Stanford, Senta Georgia

    منشور في 2013
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  5. 5
    Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

    Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders حسب Hane Lee, Joshua L. Deignan, Naghmeh Dorrani, Samuel P. Strom, Sibel Kantarci, Fabiola Quintero‐Rivera, Kingshuk Das, Traci L. Toy, Bret Harry, Michael Yourshaw, Michelle Fox, Brent L. Fogel, Julián A. Martínez-Agosto, Derek A. Wong, Vivian Y. Chang, Perry B. Shieh, Christina G.S. Palmer, Katrina M. Dipple, Wayne W. Grody, Éric Vilain, Stanley F. Nelson

    منشور في 2014
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  6. 6
    Pontocerebellar hypoplasia type 1

    Pontocerebellar hypoplasia type 1 حسب Sabine Rudnik–Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul‐Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M. Ryan, Francesco Muntoni, Maja Steinlin, László Sztriha, J. Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, P. G. Barth, William Reardon, Michael Yourshaw, Stanley F. Nelson, Thomas Eggermann, Klaus Zerres

    منشور في 2013
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  7. 7
    Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

    Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration حسب Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik–Schöneborn, Manoj P. Menezes, Ji Eun Hong, Derek W. Leong, Jan Senderek, Michael S. Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul‐Neumann, Andrew J. Kornberg, Manuel Castro‐Gago, María Jesús Sobrido, Masafumi Sanefuji, Perry B. Shieh, Noriko Salamon, Ronald C. Kim, Harry V. Vinters, Zugen Chen, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Joanna C. Jen

    منشور في 2012
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