Результаты поиска - Anna Lehman

Отмена результатов
  1. 1
    Transcriptional Regulation of BACE1, the β-Amyloid Precursor Protein β-Secretase, by Sp1

    Transcriptional Regulation of BACE1, the β-Amyloid Precursor Protein β-Secretase, by Sp1 по Michelle A. Christensen, Weihui Zhou, Hong Qing, Anna Lehman, Sjaak Philipsen, Weihong Song

    Опубликовано 2003
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    Artigo
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  2. 2
    DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing

    DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing по Patricia Birch, Shelin Adam, Nick Bansback, Rachel R. Coe, James Hicklin, Anna Lehman, K. C. Li, Jan M. Friedman

    Опубликовано 2016
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    Artigo
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  3. 3
    Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies

    Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies по Adeline Jacquinet, Lydie Flasse, Manon Dohet, Romane Vanhaeren, Hélène Pendeville, Carol Saunders, Anna Lehman, Catherine Pienkowski, Karine Morcel, Daniel Guerrier, Vincent Bours, Bernard Peers

    Опубликовано 2025
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    Pré-impressão
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  4. 4
    The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

    The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study по Nick Dragojlovic, Alison M. Elliott, Shelin Adam, Clara van Karnebeek, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Christèle du Souich, Jan M. Friedman, Larry D. Lynd

    Опубликовано 2018
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    Revisão
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  5. 5
    Genetic testing in monogenic early-onset atrial fibrillation

    Genetic testing in monogenic early-onset atrial fibrillation по Brandon Chalazan, E. Freeth, Arezoo Mohajeri, Prakash Krishnan, Matthew T. Bennett, Jagdeep S. Walia, L. Halperin, Thomas M. Roston, Julieta Lazarte, Robert A. Hegele, Anna Lehman, Zachary Laksman

    Опубликовано 2023
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    Artigo
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  6. 6
    Loss-of-function mitochondrial DNA polymerase gamma variants cause vascular smooth muscle cells to secrete a diffusible mitogenic factor

    Loss-of-function mitochondrial DNA polymerase gamma variants cause vascular smooth muscle cells to secrete a diffusible mitogenic factor по Samantha Rothwell, Irvin Ng, Sophia Shalchy-Tabrizi, Pola Kalinowski, Omnia Taha, Italia Paris, Angelica Baniqued, Lisa Lin, Michelle M. Mezei, Anna Lehman, Lisa M. Julian, Damon Poburko

    Опубликовано 2025
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    Artigo
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  7. 7
    Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

    Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions по Indhu‐Shree Rajan‐Babu, Junran J. Peng, Readman Chiu, Patricia Birch, Madeline Couse, Colleen Guimond, Anna Lehman, Jill Mwenifumbo, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, İnanç Birol, Jan M. Friedman

    Опубликовано 2021
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    Artigo
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  8. 8
    <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome

    <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome по Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, Jérôme Thiry, Claire Josse, Aimé Lumaka, Elise Brischoux‐Boucher, Christèle Dubourg, Véronique David, Laurent Pasquier, Anna Lehman, Karine Morcel, Daniel Guerrier, Vincent Bours

    Опубликовано 2020
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    Artigo
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  9. 9
    Mutations in NOTCH1 Cause Adams-Oliver Syndrome

    Mutations in NOTCH1 Cause Adams-Oliver Syndrome по Anna-Barbara Stittrich, Anna Lehman, Dale L. Bodian, J. R. Ashworth, Zheyuan Zong, Hong Li, Patricia Lam, Alina Khromykh, Ramaswamy K. Iyer, Joseph G. Vockley, Rajiv Baveja, Ermelinda Santos Silva, Joanne Dixon, Eyby Leon, Benjamin D. Solomon, Gustavo Glusman, John E. Niederhuber, Jared C. Roach, Millan S. Patel

    Опубликовано 2014
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    Artigo
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  10. 10
    The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

    The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders по Nick Dragojlovic, Clara van Karnebeek, Aisha Ghani, Dallas Genereaux, Ellen Kim, Patricia Birch, Shelin Adam, Nick Dragojlovic, Christèle du Souich, Alison M. Elliott, Anna Lehman, Larry D. Lynd, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Alison M. Elliott, Jan M. Friedman, Larry D. Lynd

    Опубликовано 2019
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    Artigo
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  11. 11
    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome по Hannah Sleven, Seth J. Welsh, Jing Yu, Mair E. A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horváth, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D. King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N. Nelson, Jonathan Williams, Penny Clouston, James Hagman, Andrea H. Németh

    Опубликовано 2016
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    Artigo
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  12. 12
    Consensus clinical management guidelines for Acid Sphingomyelinase Deficiency (Niemann-Pick disease types A, B and A/B)

    Consensus clinical management guidelines for Acid Sphingomyelinase Deficiency (Niemann-Pick disease types A, B and A/B) по Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Bolton, Andrea Dardis, Anna Lehman, O. Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Süheyl Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla E. M. Hollak, Marie T. Vanier, Margaret M. McGovern, Edward H. Schuchman

    Опубликовано 2022
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  13. 13
    Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

    Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B) по Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Süheyl Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla E. M. Hollak, Marie T. Vanier, Margaret M. McGovern, Edward H. Schuchman

    Опубликовано 2023
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    Artigo
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  14. 14
    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy по Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Tom W. Claydon, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E. Buerki, Tara Candido, Patrice Eydoux, Daniel M. Evans, William T. Gibson, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Tamsin Tarling, Eric Toyota, Katelin N. Townsend, Margot I. Van Allen, Clara van Karnebeek, Suzanne Vercauteren

    Опубликовано 2017
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    Artigo
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  15. 15
    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome по Josephina Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar, Sander J.A. Beekmans, Nicolette den Hollander, Emilia K. Bijlsma, Appolonia Helderman-van den Enden, Joanne Verheij, Gustavo Glusman, Jared C. Roach, Anna Lehman, Millan S. Patel, Bert de Vries, Claudia Ruivenkamp, Peter Itin, Katrina Prescott, S.D. Clarke, Richard C. Trembath, Martin Zenker, Maja Sukalo, Lut Van Laer, Bart Loeys, Wim Wuyts

    Опубликовано 2015
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    Artigo
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  16. 16
    Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

    Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis по Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza, Emma L. Baple, Reza Maroofian, Harold E. Cross, Ajith Sreekantan-Nair, David A. Priestman, Saeed Al-Turki, Meriel McEntagart, Christos Proukakis, Louise Royle, Radoslaw P. Kozak, Lailá Bastaki, Michael A. Patton, Karin Wagner, Roselyn Coblentz, Joy Price, Michelle M. Mezei, Kamilla Schlade‐Bartusiak, Frances M. Platt, Matthew E. Hurles, Andrew H. Crosby

    Опубликовано 2013
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    Artigo
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  17. 17
    Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

    Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood по Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross, Ramona Salvarinova, Joy Yaplito‐Lee, Saikat Santra, Casper Shyr, Gabriella Horváth, Patrice Eydoux, Anna Lehman, Virginie Bernard, Theresa Newlove, Henry Ukpeh, Anupam Chakrapani, Mary Anne Preece, Sarah Ball, James Pitt, Hilary Vallance, Marion B. Coulter-Mackie, Hien Anh Thi Nguyen, Linhua Zhang, Amit P. Bhavsar, Graham Sinclair, Abdul Waheed, Wyeth W. Wasserman, Sylvia Stöckler‐Ipsiroglu

    Опубликовано 2014
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    Artigo
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  18. 18
    Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

    Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis по James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana M. Jensen, Sarah Collins, Małgorzata J.M. Nowaczyk, Marjorie J. Lindhurst, Katherine Christensen, Stephen R. Braddock, Heather A. Brandling‐Bennett, Raoul C. M. Hennekam, Brian Hon‐Yin Chung, Anna Lehman, John Su, SuYuen Ng, David J. Amor, Jacek Majewski, Les Biesecker, Kym M. Boycott, William B. Dobyns, Mark O’Driscoll, Ute Moog, Laura M. McDonell

    Опубликовано 2016
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    Artigo
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  19. 19
    KDM5A mutations identified in autism spectrum disorder using forward genetics

    KDM5A mutations identified in autism spectrum disorder using forward genetics по Lauretta El Hayek, İslam Oğuz Tuncay, Nadine Nijem, Jamie L. Russell, Sara Ludwig, Kiran Kaur, Xiaohong Li, Priscilla Anderton, Miao Tang, Amanda Gerard, Anja Heinze, Pia Zacher, Hessa S. Alsaif, Abolfazl Rad, Kazem Hassanpour, Mohammad Reza Abbaszadegan, Camerun Washington, Barbara R. DuPont, Raymond J. Louie, Madeline Couse, Maha Faden, R. Curtis Rogers, Rami Abou Jamra, Ellen Roy Elias, Reza Maroofian, Henry Houlden, Anna Lehman, Bruce Beutler, Maria H. Chahrour

    Опубликовано 2020
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    Artigo
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  20. 20
    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation по D.L. Polla, Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman, Dmitriy Niyazov, Fleur van Dijk, Serwet Demirdas, Marjon A. van Slegtenhorst, Anneke J.A. Kievit, Céline Schulz, Linlea Armstrong, Xin Bi, Daniel J. Rader, Kosuke Izumi, Elaine H. Zackai, Elisa De Franco, Paula Jorge, Sophie C. Huffels, Marina P. Hommersom, Sian Ellard, Dirk J. Lefeber, Avni Santani, Nicholas J. Hand, Hans van Bokhoven, Miao He, Arjan P.M. de Brouwer

    Опубликовано 2021
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    Artigo
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