نتائج البحث - Allyn McConkie‐Rosell

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  1. 1
    Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

    Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors حسب Allyn McConkie‐Rosell, Brenda Finucane, Amy Cronister, Liane Abrams, Robin L. Bennett, B. Pettersen

    منشور في 2005
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  2. 2
    Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone <i>HIST1H1E</i> and literature review

    Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone <i>HIST1H1E</i> and literature review حسب Lara J. Duffney, Purnima Valdez, Martine Tremblay, Xinyu Cao, Sarah Montgomery, Allyn McConkie‐Rosell, Yong‐hui Jiang

    منشور في 2018
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  3. 3
    Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention

    Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention حسب Vandana Shashi, Waverly Harrell, Shaun M. Eack, Courtney Sanders, Allyn McConkie‐Rosell, Matcheri S. Keshavan, Melanie J. Bonner, Kelly Schoch, Stephen R. Hooper

    منشور في 2015
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  4. 4
    Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

    Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? حسب Allyn McConkie‐Rosell, Stephen R. Hooper, Loren Peña, Kelly Schoch, Rebecca C. Spillmann, Yong‐Hui Jiang, Heidi Cope, Christina G.S. Palmer, Vandana Shashi

    منشور في 2018
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  5. 5
    Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

    Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses حسب Kelly Schoch, Queenie K.‐G. Tan, Nicholas Stong, Kristen Deak, Allyn McConkie‐Rosell, Marie McDonald, David B. Goldstein, Yong‐Hui Jiang, Vandana Shashi

    منشور في 2020
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  6. 6
    The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

    The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders حسب Vandana Shashi, Allyn McConkie‐Rosell, Bruce Rosell, Kelly Schoch, Kasturi Vellore, Marie McDonald, Yong‐hui Jiang, Pingxing Xie, Anna C. Need, David B. Goldstein

    منشور في 2013
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  7. 7
    A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

    A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network حسب Rebecca C. Spillmann, Allyn McConkie‐Rosell, Loren Peña, Yong‐Hui Jiang, Kelly Schoch, Sophie Nicole, Camilla Sanders, Jennifer A. Sullivan, Stephen R. Hooper, Vandana Shashi

    منشور في 2017
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  8. 8
    The FMR1 premutation and reproduction

    The FMR1 premutation and reproduction حسب Michael D. Wittenberger, Randi J. Hagerman, Stephanie L. Sherman, Allyn McConkie‐Rosell, Corrine K. Welt, Robert W. Rebar, Emily C. Corrigan, Joe Leigh Simpson, Lawrence M. Nelson

    منشور في 2006
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  9. 9
    Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders

    Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders حسب Allyn McConkie Rosell, Loren Peña, Kelly Schoch, Rebecca C. Spillmann, Jennifer A. Sullivan, Stephen R. Hooper, Yong‐hui Jiang, Nicolas Mathey‐Andrews, David B. Goldstein, Vandana Shashi

    منشور في 2016
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  10. 10
    Recommendations from Multi‐disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X‐associated Disorders

    Recommendations from Multi‐disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X‐associated Disorders حسب Allyn McConkie‐Rosell, Liane Abrams, Brenda Finucane, Amy Cronister, Louise W. Gane, Sarah M. Coffey, Stephanie L. Sherman, Lawrence M. Nelson, Elizabeth Berry‐Kravis, David Hessl, Sufen Chiu, Natalie Street, Ajay Vatave, Randi J. Hagerman

    منشور في 2007
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  11. 11
    A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic

    A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic حسب Maria Veiga‐da‐Cunha, Isabelle Gerin, Yuan‐Tsong Chen, Thierry de Barsy, Pascale de Lonlay, Carlo Dionisi‐Vici, Christiane Fenske, Philip Lee, James V. Leonard, Irène Maire, Allyn McConkie‐Rosell, Susanne Schweitzer, Miikka Vikkula, Emile Van Schaftingen

    منشور في 1998
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  12. 12
    The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase

    The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase حسب Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper J. Mygind, John Hintze, Jiang Chen, Verity Hartill, Katrina Prescott, Colin A. Johnson, Sureni V. Mullegama, Allyn McConkie‐Rosell, Marie McDonald, Lars Hestbjerg Hansen, Sergey Y. Vakhrushev, Katrine T. Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren J. Joshi, Adnan Halim

    منشور في 2023
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  13. 13
    Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

    Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder حسب Ning Liu, Kelly Schoch, Xi Luo, Loren D.M. Peña, Venkata Hemanjani Bhavana, Mary K. Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen Deak, Marie McDonald, Allyn McConkie‐Rosell, M. Louise Markert, Peter G. Kranz, Nicholas Stong, Anna C. Need, David Bick, Michelle D. Amaral, Elizabeth A. Worthey, Shawn Levy, Michael F. Wangler, Hugo J. Bellen, Vandana Shashi, Shinya Yamamoto

    منشور في 2018
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  14. 14
    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay حسب Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David Bearden, Asbjørg Stray‐Pedersen, Øyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara Skraban, Matthew A. Deardorff, Jeremy Friedman, Zeynep Coban‐Akdemir, Sophie Nicole, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie‐Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon F. Freedman, Deeksha Bali, Francisca Millan, Sherri J. Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martínez‐Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Samuel P. Strom, Éric Vilain, Joshua L. Deignan, Fabiola Quintero‐Rivera, Sibel Kantarci, Naghmeh Dorrani, Sureni V. Mullegama, Sung‐Hae Kang, Szabolcs Szelinger, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Azamian S. Mashid, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, Andrea Gropman, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln

    منشور في 2017
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  15. 15
    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability حسب Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban‐Akdemir, Janson J. White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, B P Wordsworth, Mike Oldridge, Tracy Lester, Alistair Calder, Katja Dumić, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati J. Mason, Lynda Pollack, Allyn McConkie‐Rosell, Wei Kelly, Marie McDonald, Natalie Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lúcia Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

    منشور في 2021
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  16. 16
    Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

    Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases حسب Loren D.M. Peña, Yong‐Hui Jiang, Kelly Schoch, Rebecca C. Spillmann, Sophie Nicole, Nicholas Stong, Sarah R. Horn, Jennifer A. Sullivan, Allyn McConkie‐Rosell, Sujay Kansagra, Edward C. Smith, Mays El-Dairi, Jane S. Bellet, Martha Ann Keels, Joan Jasien, Peter G. Kranz, Richard J. Noel, Shashi Nagaraj, Robert K. Lark, Daniel S. Wechsler, Daniela del Gaudio, Marco L. Leung, Laura G. Hendon, Collette C. Parker, Kelly L. Jones, David B. Goldstein, Vandana Shashi, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Bret L. Bostwick, Lindsay C. Burrage, Shan Chen, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Mahshid S. Azamian, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Jing Zhang, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Chris A. Walsh, Cecilia Esteves, Ingrid A. Holm, Isaac S. Kohane, Paul Mazur, Alexa T. McCray, Matthew Might, Rachel Ramoni, Kimberly Splinter, David Bick, Camille L. Birch, Braden Boone, Donna M. Brown

    منشور في 2017
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  17. 17
    Germline AGO2 mutations impair RNA interference and human neurological development

    Germline AGO2 mutations impair RNA interference and human neurological development حسب Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie‐Rosell, Marie McDonald, Bernarda Lozić, Ee‐Shien Tan, Erica H. Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld‐Huijssoon, Henny H. Lemmink, Breana Cham, Tanja Kovačević, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jérémie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein H. Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith‐Rae Dias, Carey‐Anne Evans, P. Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P.A. Stegmann, Christian Kubisch, Ene‐Choo Tan, Ghayda Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans‐Jürgen Kreienkamp

    منشور في 2020
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  18. 18
    Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

    Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain حسب Partha Sen, Yaping Yang, C. Navarro, Iris A. L. Silva, Przemysław Szafrański, Katarzyna Kołodziejska, Avinash V. Dharmadhikari, Hasnaa R. Mostafa, Harry P. Kozakewich, Debra L. Kearney, John B. Cahill, Merrissa Whitt, Masha Bilic, Linda R. Margraf, Adrian Charles, Jack Goldblatt, Kathleen Gibson, Patrick E. Lantz, A. Julian Garvin, John K. Petty, Zeina Kiblawi, Craig W. Zuppan, Allyn McConkie‐Rosell, Marie McDonald, Stacey L. Peterson‐Carmichael, Jane T. Gaede, Binoy Shivanna, Deborah Schady, Philippe Friedlich, Stephen R. Hays, Irene Valenzuela, Ulrike Siebers‐Renelt, Axel Bohring, Laura S. Finn, Joseph R. Siebert, Csaba Galambos, Lananh Nguyen, Melissa Riley, Nicolas Chassaing, Adeline Vigouroux, Gustavo Rocha, Susana Fernandes, Jane E. Brumbaugh, Kari E. Roberts, Luk Ho-Ming, Ivan F. M. Lo, Stephen T.S. Lam, Romana Gerychová, Marta Ježová, Iveta Valášková, Florence Fellmann, Katayoun Afshar, Éric Giannoni, Vincent Muhlethaler, Jinlong Liang, J. Beckmann, Janet Lioy, Hitesh Deshmukh, Lakshmi Srinivasan, Daniel T. Swarr, Melissa Sloman, Charles Shaw‐Smith, Rosa Laura van Loon, Cecilia Hagman, Yves Sznajer, Catherine Barréa, Christine Galant, Thierry Detaille, Jennifer Wambach, F. Sessions Cole, Aaron Hamvas, Lawrence S. Prince, Karin E. M. Diderich, Alice S. Brooks, Robert M. Verdijk, Hari Ravindranathan, Ella Sugo, David Mowat, Michael Baker, Claire Langston, Stephen E. Welty, Paweł Stankiewicz

    منشور في 2013
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  19. 19
    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome حسب Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie, Julia Bay, Kathryn M. Harper, Alvaro A. Beltran, Lorena J. Munoz, Liset Falcon Rodriguez, Michael C. Stankewich, Richard Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May, Louise Bier, Vimla S. Aggarwal, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer MacKenzie, Eva H. Brilstra, Koen L.I. van Gassen, Richard H. van Jaarsveld, Renske Oegema, Gretchen Parsons, Paul R. Mark, Ingo Helbig, Sarah McKeown, Robert F. Stratton, Benjamin Cogné, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V. Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T.C. Shieh, Amy Kritzer, Parul Jayakar, Evangeline C. Kurtz‐Nelson, Raphael Bernier, Tianyun Wang, Evan E. Eichler, Ingrid M.B.H. van de Laar, Allyn McConkie‐Rosell, Marie McDonald, Jennifer L. Kemppainen, Brendan C. Lanpher, Laura Schultz‐Rogers, Lauren Gunderson, Pavel N. Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, Adriana S. Beltrán, Michael T. Zimmermann, Brenda Temple, Sheryl S. Moy, Eric W. Klee, Queenie K-G Tan, Damaris N. Lorenzo

    منشور في 2021
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  20. 20
    De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

    De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype حسب Vandana Shashi, Loren D.M. Peña, Katherine Kim, Barbara K. Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M. McLaughlin, Megan Cho, Nicholas Stong, Scott E. Hickey, Christine Shuss, Michael Freemark, Jane S. Bellet, Martha Ann Keels, Melanie J. Bonner, Maysantoine A. El-Dairi, Megan W. Butler, Peter G. Kranz, Constance T. R. M. Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, René Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietiläinen, Aarno Palotie, Mitja Kurki, Alexander Hoischen, Anna C. Need, David B. Goldstein, Fanny Kortüm, A. Bacino, Brendan Lee, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Mahim Jain, Seema R. Lalani, Richard A. Lewis, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Neil A. Hanchard, Tran A. Alyssa, Alejandro E. Mercedes, Azamian S. Mashid, Hugo J. Bellen, Shinya Yamamoto, Michael F. Wangler, Monte Westerfield, John H. Postlethwait, Christine M. Eng, Yaping Yang, Donna M. Muzny, Patricia A. Ward, Rachel Ramoni, Alexa T. McCray, Issac S. Kohane, Ingrid A. Holm, Matthew Might, Paul Mazur, Kimberly Splinter, Cecilia Esteves, Vandana Shashi, Yong‐hui Jiang, Loren D.M. Peña, Allyn McConkie‐Rosell, Kelly Schoch, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, David B. Goldstein, Nicholas Stong, Alan H. Beggs, Joseph Loscalzo, Calum A. MacRae, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Richard L. Maas, Joel B. Krier, Lance H. Rodan, Chris A. Walsh, Cynthia M. Cooper, J. Carl Pallais, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Sharyn A. Lincoln, Lauren C. Briere

    منشور في 2016
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