תוצאות חיפוש - Alecia Willis

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  1. 1
    Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

    Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation מאת M. Mendiratta, Yaping Yang, Andrea Balázs, Alecia Willis, Christine M. Eng, Lefkothea Karaviti, Lorraine Potocki

    יצא לאור 2011
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    Artigo
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  2. 2
    Functional Consequences of PRODH Missense Mutations

    Functional Consequences of PRODH Missense Mutations מאת Hans‐Ulrich Bender, Shlomo Almashanu, Gary Steel, Chien-an A. Hu, Wei‐Wen Lin, Alecia Willis, Ann E. Pulver, David Valle

    יצא לאור 2005
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    Artigo
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  3. 3
    Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification

    Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification מאת Wei Song, Sabrina A. Gardner, Hayk Hovhannisyan, Amanda Natalizio, Katelyn S. Weymouth, Wenjie Chen, Ildiko Thibodeau, Ekaterina Bogdanova, Stanley Letovsky, Alecia Willis, Narasimhan Nagan

    יצא לאור 2015
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    Artigo
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  4. 4
    Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

    Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations מאת Johannes Häberle, Oleg A. Shchelochkov, Jing Wang, Panagiotis Katsonis, Lynn Hall, Sara Reiss, Angela Eeds, Alecia Willis, Meeta Yadav, Samantha R Summar, Olivier Lichtarge, Vicente Rubio, Lee‐Jun C. Wong, Marshall Summar

    יצא לאור 2010
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    Artigo
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  5. 5
    Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

    Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders מאת Patrícia B. S. Celestino-Soper, Cindy Skinner, Richard J. Schroer, Patricia A. Eng, Jayant Shenai, Małgorzata M.J. Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle Patel, LaDonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A. Rosenfeld, Roger E. Stevenson, Sung-Hae L. Kang, Sau Wai Cheung, Arthur L. Beaudet, Paweł Stankiewicz

    יצא לאור 2012
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    Artigo
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  6. 6
    Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

    Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders מאת Yaping Yang, Donna M. Muzny, Jeffrey G. Reid, Matthew N. Bainbridge, Alecia Willis, Patricia A. Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu, Matthew T. Hardison, Richard Person, Mir Reza Bekheirnia, Magalie S. Leduc, Amelia Kirby, Peter Pham, Jennifer Scull, Min Wang, Yan Ding, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Christine M. Eng

    יצא לאור 2013
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    Artigo
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  7. 7
    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing מאת Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia A. Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie S. Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J. Craigen, Mir Reza Bekheirnia, Asbjørg Stray‐Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey G. Reid, Matthew N. Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L. Beaudet, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng

    יצא לאור 2014
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    Artigo
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  8. 8
    BRCA Share: A Collection of Clinical BRCA Gene Variants

    BRCA Share: A Collection of Clinical BRCA Gene Variants מאת Christophe Béroud, Stanley Letovsky, Corey Braastad, Sandrine M. Caputo, Olivia Beaudoux, Yves Jean Bignon, Brigitte Bressac–de Paillerets, Myriam Bronner, Crystal M. Buell, Gwenaëlle Collod‐Béroud, Florence Coulet, Nicolas Derive, Christina DiVincenzo, Christopher Elzinga, Céline Garrec, Claude Houdayer, Izabela Karbassi, Sarab Lizard, Angela Love, Danièle Muller, Narasimhan Nagan, Camille Nery, Ghadi Raï, Françoise Révillion, David Salgado, Nicolas Sévenet, Olga M. Sinilnikova, Hagay Sobol, Dominique Stoppa‐Lyonnet, Christine Toulas, Edwin Trautman, Dominique Vaur, Paul Vilquin, Katelyn S. Weymouth, Alecia Willis, Marcia Eisenberg, Charles M. Strom

    יצא לאור 2016
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    Artigo
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  9. 9
    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel מאת Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P. Kang, Rebecca Mar‐Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret A. Kenna, John Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen‐Fu Cheng, Karen B. Avraham, Xin‐Hua Hu, Gema Garrido, Miguel A. Moreno‐Pelayo, John H. Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel‐Vanagaite, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E. Hemphill, Andrew R. Grant, Rebecca K. Siegert, Marina T. DiStefano, Sami S. Amr, Heidi L. Rehm, Ahmad Abou Tayoun, Héla Azaiez, Kevin T. Booth, Richard J. Smith, Anne B.S. Giersch, Cynthia C. Morton, Xue Z. Liu, Mustafa Tekin, Yu Hong Lu, Huijun Yuan, Hideki Mutai, Lisa A. Schimmenti

    יצא לאור 2019
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    Artigo
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