檢索結果 - Rachel Slaugh

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    Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

    Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly... 由 Patrick Tarpey, F. Lucy Raymond, Sarah O’Meara, Sarah Edkins, Jon W. Teague, Adam Butler, Ed Dicks, Claire Stevens, Calli Tofts, Tim Avis, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Andy Jenkinson, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sofie West, Sara Widaa, Uma Mallya, Jenny Moon, Ying Luo, Susan Holder, Sarah Smithson, Jane A. Hurst, Jill Clayton‐Smith, Bronwyn Kerr, Jackie Boyle, Marie Shaw, Lucianne Vandeleur, Jayson Rodriguez, Rachel Slaugh, Douglas F. Easton, Richard Wooster, Martin Bobrow, Anand Srivastava, Roger E. Stevenson, Charles E. Schwartz, Gillian Turner, Jozef Gécz, P. Andrew Futreal, Michael R. Stratton, M. W. Partington

    出版 2007
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    Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes

    Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes 由 Yingxi Wang, Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, S. Tracy, Ying‐Chen Claire Hou, Christopher Markovic, Kostandin Valle, Victoria Tate, Khadija Belhassan, Elizabeth L. Appelbaum, Titilope M. Akinwe, Rodrigo Starosta Tzovenos, Yang Cao, Amber Neilson, Yu Liu, Nathaniel Jensen, Reza Ghasemi, Tina Lindsay, Juana G. Manuel, Sophia Couteranis, Milinn Kremitzki, Jack Ustanik, Thomas Antonacci, Jeffrey K. Ng, Andrew Emory, Laura B. Metz, Tracie DeLuca, Katherine N. Lyons, Toni M. Sinnwell, Brianne Thomeczek, K.H. Wang, Nick Sisneros, Megha Muraleedharan, Anantha Kethireddy, Marco Corbo, Harsha Gowda, Katherine Y. King, Christina A. Gurnett, Susan K. Dutcher, Catherine Gooch, Yang Eric Li, Matthew W. Mitchell, Kevin A. Peterson, Amjad Horani, Jill A. Rosenfeld, Weimin Bi, Paweł Stankiewicz, Hsiao‐Tuan Chao, Jennifer E. Posey, Christopher M. Grochowski, Zain Dardas, Erik G. Puffenberger, Christopher E. Pearson, R. Frank Kooy, Dale Annear, A. Micheil Innes, Michael Heinz, Richard D. Head, Robert E. Fulton, Stephan Toutain, Lucinda Antonacci-Fulton, Xiaoxia Cui, Robi D. Mitra, F. Sessions Cole, Julie Neidich, Patricia Dickson, Jeffrey Milbrandt, Tychele N. Turner

    出版 2025
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    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations 由 Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E. Antonarakis, Isis Atallah, Omer Bar‐Yosef, Frédéric Bilan, Kathrine Bjørgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C. Burrage, Björn Christ, Jorge L. Granadillo, Patricia Dickson, Kirsten A. Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean‐Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O’Heir, Xilma R. Ortiz‐González, Marta Pacio‐Míguez, María Palomares‐Bralo, Loren D.M. Peña, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A. Rosenfeld, Eliane Roulet‐Perez, Avni Santani, Fernando Santos‐Simarro, Ben Pode‐Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti‐Furga, Isabelle Thiffault, Richard H. van Jaarsveld, Marie Vincent, Hong‐Gang Wang, Pia Zacher, Mercedes E. Alejandro, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Hsiao‐Tuan Chao, Gary Clark, William J. Craigen, Hongzheng Dai, Shweta U. Dhar, Lisa Emrick, Alica M. Goldman, Neil A. Hanchard, Fariha Jamal, Lefkothea Karaviti, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Ronit Marom, Paolo Moretti, David R. Murdock, Sarah K. Nicholas, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Pengfei Liu, Patricia A. Ward, Edward M. Behrens, Matthew A. Deardorff, Marni J. Falk, Kelly Hassey, Kathleen Sullivan, Adeline Vanderver, David B. Goldstein, Heidi Cope, Allyn McConkie‐Rosell, Kelly Schoch, Vandana Shashi, Edward C. Smith

    出版 2021
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