نتائج البحث - Jennifer MacKenzie

  • يعرض 1 - 9 نتائج من 9
تنقيح النتائج
  1. 1
    Primary care providers’ lived experiences of genetics in practice

    Primary care providers’ lived experiences of genetics in practice حسب Brittany Harding, Colleen Webber, Lucia Rühland, Nancy Dalgarno, Christine M. Armour, Richard Birtwhistle, Glenn Brown, June C. Carroll, Michael P. Flavin, Susan P. Phillips, Jennifer MacKenzie

    منشور في 2018
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

    Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome حسب Twila M. Yobb, Martin J. Somerville, Lionel Willatt, Helen V. Firth, Karen J. Harrison, Jennifer MacKenzie, Natasha Gallo, Bernice E. Morrow, Lisa G. Shaffer, Melanie Babcock, Judy Chernos, François Bernier, Kathy Sprysak, Jesse Christiansen, Shelagh Haase, Basil G. Elyas, Margaret Lilley, Steven Bamforth, Heather E. McDermid

    منشور في 2005
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  3. 3
    Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

    Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements حسب Cinthya Zepeda‐Mendoza, Jonas Ibn-Salem, Tammy Kammin, David J. Harris, Debra Rita, Karen W. Gripp, Jennifer MacKenzie, Andrea Gropman, Brett H. Graham, Ranad Shaheen, Fowzan S. Alkuraya, Campbell K. Brasington, Edward J. Spence, Diane Masser‐Frye, Lynne M. Bird, Erica Spiegel, Rebecca Sparkes, Zehra Ordulu, Michael E. Talkowski, Miguel A. Andrade‐Navarro, Peter N. Robinson, Cynthia C. Morton

    منشور في 2017
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  4. 4
    Highly multiplexed molecular inversion probe genotyping: Over 10,000 targeted SNPs genotyped in a single tube assay

    Highly multiplexed molecular inversion probe genotyping: Over 10,000 targeted SNPs genotyped in a single tube assay حسب Paul Hardenbol, Fuli Yu, John W. Belmont, Jennifer MacKenzie, Carsten Bruckner, Tiffany Brundage, Andrew Boudreau, Steve Chow, Jim Eberle, Ayça Erbilgin, Mat Falkowski, R.C. Fitzgerald, Sy Ghose, Oleg Iartchouk, Maneesh Jain, George Karlin‐Neumann, Xiuhua Lu, Xin Miao, Bridget Moore, Martin Moorhead, Eugeni Namsaraev, Shiran Pasternak, Eunice Prakash, Karen Tran, Zhiyong Wang, Hywel B. Jones, Ronald W. Davis, T. D. Willis, Richard A. Gibbs

    منشور في 2005
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  5. 5
    Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

    Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring حسب Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo, Georg Christoph Korenke, Saadet Mercimek‐Mahmutoglu, Iris Marquart, Bruce A. Barshop, Christiane Grolik, Andrea Schlune, Brad Angle, Helena Caldeira, Turgay Coşkun, Luísa Diogo, Michael T. Geraghty, Göknur Haliloğlu, Vassiliki Konstantopoulou, Vincenzo Leuzzi, Alina Levtova, Jennifer MacKenzie, Bruno Maranda, Aizeddin A. Mhanni, Grant A. Mitchell, Andrew A. M. Morris, Theresa Newlove, Deborah L. Renaud, Fernando Scaglia, Vassili Valayannopoulos, Francjan J. van Spronsen, K. T. Verbruggen, Nataliya Yuskiv, William L. Nyhan, Andreas Schulze

    منشور في 2013
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  6. 6
    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation حسب Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn, Courtney Kiss, Anna Lehman, Jill A. Rosenfeld, Constance T. R. M. Stumpel, Alexander P.A. Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert Fonya Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, María J. Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, Megan T. Cho, Thomas P. Potjer, Gijs W.E. Santen, Michael Parker, Natalie Canham, Margaret L. McKinnon, Lorraine Potocki, Jennifer MacKenzie, Elizabeth Roeder, Philippe M. Campeau, Xiang-Jiao Yang

    منشور في 2016
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  7. 7
    Family‐centred care interventions for children with chronic conditions: A scoping review

    Family‐centred care interventions for children with chronic conditions: A scoping review حسب Andrea Chow, Ammar Saad, Zobaida Al‐Baldawi, Ryan Iverson, Becky Skidmore, Isabel Jordán, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Jamie Brehaut, Eyal Cohen, Sarah Dyack, Jane Gillis, Sharan Goobie, Cheryl R. Greenberg, Robin Z. Hayeems, Brian Hutton, Michal Inbar‐Feigenberg, Shailly Jain‐Ghai, Sara D. Khangura, Jennifer MacKenzie, John J. Mitchell, Zeinab Moazin, Stuart G. Nicholls, Amy Pender, Chitra Prasad, Andreas Schulze, Komudi Siriwardena, Rebecca N. Sparkes, Kathy N. Speechley, Sylvia Stöckler, Monica Taljaard, Mari Teitelbaum, Yannis Trakadis, Clara van Karnebeek, Jagdeep S. Walia, Kumanan Wilson, Beth K. Potter

    منشور في 2024
    احصل على النص الكامل احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  8. 8
    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
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  9. 9
    SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

    SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females حسب Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam Jackson, Alessandro Bruselles, Haley McConkey, Emilia Stellacci, Stefania Lo Cicero, Marialetizia Motta, Rosalba Carrozzo, Maria Lisa Dentici, Kirsty McWalter, Megha Desai, Kristin G. Monaghan, Aida Telegrafi, Christophe Philippe, Antonio Vitobello, Margaret Au, Katheryn Grand, Pedro A. Sanchez‐Lara, Joanne Baez, Kristin Lindstrom, Peggy Kulch, Jessica Sebastian, Suneeta Madan‐Khetarpal, Chelsea Roadhouse, Jennifer MacKenzie, Berrin Monteleone, Carol J. Saunders, July K. Jean Cuevas, Laura Cross, Dihong Zhou, Taila Hartley, Sarah L. Sawyer, Fabíola Paoli Monteiro, Tania Vertemati Secches, Fernando Kok, Laura Schultz‐Rogers, Erica L. Macke, Éva Morava, Eric W. Klee, Jennifer L. Kemppainen, Maria Iascone, Angelo Selicorni, Romano Tenconi, David J. Amor, Lynn Pais, Lyndon Gallacher, Peter D. Turnpenny, Karen Stals, Sian Ellard, Sara Cabet, Gaëtan Lesca, Pascal Joset, Katharina Steindl, Sarit Ravid, Karin Weiss, Alison M. R. Castle, Melissa T. Carter, Louisa Kalsner, Bert B.A. de Vries, Bregje W.M. van Bon, Marijke R. Wevers, Rolph Pfundt, Alexander P.A. Stegmann, Bronwyn Kerr, Helen Kingston, Kate Chandler, Willow Sheehan, Abdallah F. Elias, Deepali N. Shinde, Meghan C. Towne, Nathaniel H. Robin, Dana H. Goodloe, Adeline Vanderver, Omar Sherbini, Krista Bluske, R. Tanner Hagelstrom, Caterina Zanus, Flavio Faletra, Luciana Musante, Evangeline C. Kurtz‐Nelson, Rachel K. Earl, Britt‐Marie Anderlid, Gilles Morin, Marjon van Slegtenhorst, Karin E. M. Diderich, Alice S. Brooks, Joost Gribnau, Ruben Boers, Teresa Robert-Finestra, Lauren B. Carter, Anita Rauch, Paolo Gasparini

    منشور في 2021
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: