Resultados da pesquisa - Margaret Harr

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  1. 1
    Mutations in<i>SPECC1L</i>, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

    Mutations in<i>SPECC1L</i>, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome Por Paul Kruszka, Dong Li, Margaret Harr, Nathan R. Wilson, Daniel T. Swarr, Elizabeth M. McCormick, Rosetta Chiavacci, Mindy Li, Ariel F. Martinez, Rachel Hart, Donna M. McDonald‐McGinn, Matthew A. Deardorff, Marni J. Falk, Judith Allanson, Cindy Hudson, John P. Johnson, Irfan Saadi, Hákon Hákonarson, Maximilian Muenke, Elaine H. Zackai

    Publicado em 2014
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  2. 2
    Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

    Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia Por Elizabeth Bhoj, Dong Li, Margaret Harr, Simon Edvardson, Orly Elpeleg, Elizabeth Chisholm, Jane Juusola, Ganka Douglas, María J. Guillen Sacoto, Karine Siquier-Pernet, Abdelkrim Saadi, Christine Bôle‐Feysot, Patrick Nitschké, Alekhya Narravula, Maria Walke, Michele B. Horner, Debra-Lynn Day-Salvatore, Parul Jayakar, Samantha A. Schrier Vergano, Mark A. Tarnopolsky, Madhuri Hegde, Laurence Colleaux, Peter B. Crino, Hákon Hákonarson

    Publicado em 2016
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  3. 3
    Mutations in topoisomerase IIβ result in a B cell immunodeficiency

    Mutations in topoisomerase IIβ result in a B cell immunodeficiency Por Lori Broderick, Shawn Yost, Dong Li, Matthew D. McGeough, Laela M. Booshehri, Marisela Guaderrama, Susannah Brydges, Karolı́na Kuchárová, Niraj Patel, Margaret Harr, Hákon Hákonarson, Elaine H. Zackai, Ian G. Cowell, Caroline A. Austin, Boris Hügle, Corinna Gebauer, Jianguo Zhang, Xun Xu, Jian Wang, Ben A. Croker, Kelly A. Frazer, Christopher D. Putnam, Hal M. Hoffman

    Publicado em 2019
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  4. 4
    De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

    De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea Por Fan Xia, Matthew N. Bainbridge, Tiong Yang Tan, Michael F. Wangler, Angela E. Scheuerle, Elaine H. Zackai, Margaret Harr, V. Reid Sutton, Roopa L. Nalam, Wenmiao Zhu, Margot Nash, Monique M. Ryan, Joy Yaplito‐Lee, Jill V. Hunter, Matthew A. Deardorff, Samantha Penney, Arthur L. Beaudet, Sharon E. Plon, Eric Boerwinkle, James R Lupski, Christine M. Eng, Donna M. Muzny, Yaping Yang, Richard A. Gibbs

    Publicado em 2014
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  5. 5
    DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

    DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies Por Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julián A. Martínez-Agosto, Natalia Gomez‐Ospina, Natalie M. Gallant, Jonathan A. Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka‐Kowalnik, Michelle Fox, Joshua L. Deignan, Éric Vilain, Emily Hendricks, Margaret Harr, Sarah E. Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H. Zackai, Ian D. Krantz, A. Micheil Innes, Stanley F. Nelson, Wayne W. Grody, Fabiola Quintero‐Rivera

    Publicado em 2015
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  6. 6
    Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience

    Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience Por Robyn Fossey, David C. Kochan, Erin Winkler, Joel E. Pacyna, Janet E. Olson, Stephen N. Thibodeau, John J. Connolly, Margaret Harr, Meckenzie Behr, Cynthia A. Prows, Beth L. Cobb, Melanie F. Myers, Nancy Leslie, Bahram Namjou‐Khales, Hila Milo Rasouly, Julia Wynn, Alexander Fedotov, Wendy K. Chung, Ali G. Gharavi, Janet L. Williams, Lynn Pais, Ingrid A. Holm, Sharon Aufox, Maureen E. Smith, Aaron Scrol, Kathleen A. Leppig, Gail P. Jarvik, Georgia L. Wiesner, Rongling Li, Mary Stroud, Jordan W. Smoller, Richard R. Sharp, Iftikhar J. Kullo

    Publicado em 2018
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  7. 7
    Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network

    Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network Por Georgia L. Wiesner, Alanna Kulchak Rahm, Paul S. Appelbaum, Sharon Aufox, Harris T. Bland, Carrie L. Blout Zawatsky, Kurt D. Christensen, Wendy K. Chung, Ellen Wright Clayton, Robert C. Green, Margaret Harr, Nora B. Henrikson, Christin Hoell, Ingrid A. Holm, Gail P. Jarvik, Iftikhar J. Kullo, Philip E. Lammers, Eric B. Larson, Noralane M. Lindor, Maddalena Marasà, Melanie F. Myers, Josh F. Peterson, Cynthia A. Prows, James D. Ralston, Hila Milo Rasouly, Richard R. Sharp, Maureen E. Smith, Sara L. Van Driest, Janet L. Williams, Marc S. Williams, Julia Wynn, Kathleen A. Leppig

    Publicado em 2020
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  8. 8
    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants Por Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vũ Chí Dũng, Lisa Emrick, David B. Everman, Koen L.I. van Gassen, Süleyman Gülsüner, Margaret Harr, Mahim Jain, Alma Kuechler, Kathleen A. Leppig, Donna M. McDonald‐McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth Roeder, R. Curtis Rogers, Lena Sagi‐Dain, Julie C. Sapp, Alejandro A. Schäffer, Denny Schanze, Helen Stewart, Jenny C. Taylor, Nienke E. Verbeek, Magdalena Walkiewicz, Elaine H. Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G. Biesecker

    Publicado em 2018
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  9. 9
    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update Por Lijia Huang, Megan R. Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura Baker, Tabib A. Dabir, Katrina M. Dipple, William B. Dobyns, Jane Estrella, Hanna Faghfoury, Francine Pinheiro Favaro, Himanshu Goel, Pernille Axél Gregersen, Karen W. Gripp, Art Grix, M. L. Guion‐Almeida, Margaret Harr, Cindy Hudson, Alasdair G. W. Hunter, John P. Johnson, Shelagh Joss, Amy Kimball, Usha Kini, Antonie D. Kline, Julie Lauzon, Dorte L. Lildballe, Vanesa López‐González, Johanna Martinezmoles, Cliff Meldrum, Ghayda Mirzaa, Chantal F. Morel, Jenny E.V. Morton, Louise C. Pyle, Fabiola Quintero‐Rivera, Julie Richer, Angela E. Scheuerle, Bitten Schönewolf‐Greulich, Deborah Shears, Josh Silver, Amanda Smith, I. Karen Temple, Jiddeke M. van de Kamp, Fleur S van Dijk, Anthony M. Vandersteen, Sue M. White, Elaine H. Zackai, Ruobing Zou, CareRare Canada Consortium, Dennis E. Bulman, Kym M. Boycott, Matthew A. Lines

    Publicado em 2015
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  10. 10
    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling Por Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, W.M. Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie T. R. M. Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gécz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton‐Brown, Michael Parker, Alex Henderson, Sally Ann Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury‐Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques C. Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin R. Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine E. Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster‐Barber, Antonie D. Kline, Amy Kimball, Elaine H. Zackai, Margaret Harr, Joyce E. Fox, Julie McLaughlin, Kristin Lindstrom, Katrina Haude, Kees van Roozendaal, Han G. Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera M. Kalscheuer, Sarju Mehta, Nicholas Katsanis, Tjitske Kleefstra

    Publicado em 2015
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  11. 11
    Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

    Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations Por Niall J. Lennon, Leah C. Kottyan, Christopher Kachulis, Noura S. Abul‐Husn, Joshua Arias, Gillian M. Belbin, Jennifer E. Below, Sonja I. Berndt, Wendy K. Chung, James J. Cimino, Ellen Wright Clayton, John J. Connolly, David R. Crosslin, Ozan Dikilitas, Digna R. Velez Edwards, QiPing Feng, Marissa Fisher, Robert R. Freimuth, Tian Ge, Sonja Berndt, Joel N. Hirschhorn, Ruth J. F. Loos, Joseph Glessner, Allan Gordon, Candace Patterson, Hákon Hákonarson, Maegan Harden, Margaret Harr, Joel N. Hirschhorn, Clive Hoggart, Li Hsu, Marguerite R. Irvin, Gail P. Jarvik, Elizabeth W. Karlson, Atlas Khan, Amit V. Khera, Krzysztof Kiryluk, Iftikhar J. Kullo, Katie Larkin, Nita A. Limdi, Jodell E. Linder, Ruth J. F. Loos, Yuan Luo, Edyta Małolepsza, Teri A. Manolio, Lisa J. Martin, L.R. McCarthy, Elizabeth M. McNally, James B. Meigs, Tesfaye B. Mersha, Jonathan D. Mosley, Anjene Musick, Bahram Namjou, Nihal Pai, Lorenzo L. Pesce, Ulrike Peters, Josh F. Peterson, Cynthia A. Prows, Megan J. Puckelwartz, Heidi L. Rehm, Dan M. Roden, Elisabeth A. Rosenthal, Robb Rowley, Konrad Teodor Sawicki, Daniel J. Schaid, Roelof A. J. Smit, Johanna L. Smith, Jordan W. Smoller, Minta Thomas, Hemant K. Tiwari, Diana M. Toledo, Nataraja Sarma Vaitinadin, David L. Veenstra, Theresa L. Walunas, Zhe Wang, Wei‐Qi Wei, Chunhua Weng, Georgia L. Wiesner, Xianyong Yin, Eimear E. Kenny

    Publicado em 2024
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  12. 12
    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Por Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea Petersen, Luis A. Pérez‐Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hančárová, Šárka Bendová, Martin Schwarz, Radka Kremlíková Pourová, Zdeněk Sedláček, Beth Keena, Michael March, Cuiping Hou, Nora O’Connor, Elizabeth Bhoj, Margaret Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, Mark A. Tarnopolsky, Lauren Brady, Michael Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina H. Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tuğçe B. Balcı, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, C. Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, M. Mahdi Motazacker, Julián A. Martínez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni‐Ardori, Mary Ellen Palko, Tzung‐Chien Hsieh, Peter Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John M. Greally, Sébastien Jacquemont, Khadijé Jizi, Ange‐Line Bruel, Chloé Quēlin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Hurst, Michelle L. Thompson, Ryan Schmidt, Linda M. Randolph, Rebecca C. Spillmann, Vandana Shashi

    Publicado em 2023
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  13. 13
    Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

    Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network Por Hana Zouk, Eric Venner, Niall J. Lennon, Donna M. Muzny, Debra Abrams, Samuel E. Adunyah, Ladia Albertson‐Junkans, Darren C. Ames, Paul S. Appelbaum, Samuel Aronson, Sharon Aufox, Lawrence Babb, Adithya Balasubramanian, Hana Bangash, Melissa Basford, Lisa Bastarache, Samantha Baxter, Meckenzie Behr, Barbara Benoit, Elizabeth Bhoj, Suzette J. Bielinski, Harris T. Bland, Carrie L. Blout Zawatsky, Kenneth M. Borthwick, Erwin P. Böttinger, Mark Bowser, Harrison Brand, Murray H. Brilliant, Wendy Brodeur, Pedro J. Caraballo, David Carrell, Andrew Carroll, Berta Almoguera, Lisa Castillo, Víctor M. Castro, Gauthami Chandanavelli, Theodore Chiang, Rex L. Chisholm, Kurt D. Christensen, Wendy K. Chung, Christopher G. Chute, Brittany City, Beth L. Cobb, John J. Connolly, Paul K. Crane, Katherine D. Crew, David R. Crosslin, Mariza de Andrade, Jessica De la Cruz, Shawn Denson, Joshua C. Denny, Tim DeSmet, Ozan Dikilitas, Christopher A. Friedrich, Stephanie M. Fullerton, Birgit Funke, Stacey Gabriel, Vivian S. Gainer, Ali G. Gharavi, Andrew M. Glazer, Joseph Glessner, Jessica Goehringer, Allan Gordon, Chet Graham, Robert C. Green, Justin H. Gundelach, Jyoti G. Dayal, Heather S. Hain, Hákon Hákonarson, Maegan Harden, John B. Harley, Margaret Harr, Andrea L. Hartzler, M. Geoffrey Hayes, Scott J. Hebbring, Nora B. Henrikson, Andrew D. Hershey, Christin Hoell, Ingrid A. Holm, Kayla M. Howell, George Hripcsak, Jianhong Hu, Gail P. Jarvik, Joy C. Jayaseelan, Yunyun Jiang, Yoonjung Yoonie Joo, Sheethal Jose, Navya Shilpa Josyula, Anne E. Justice, Sara E. Kalla, Divya Kalra, Elizabeth W. Karlson, Melissa Kelly, Brendan J. Keating, Eimear E. Kenny, Dustin Key, Krzysztof Kiryluk, Terrie Kitchner, Barbara J. Klanderman, Eric W. Klee

    Publicado em 2019
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  14. 14
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome Por Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    Publicado em 2021
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