Výsledky vyhledávání - Anna Lehman

Upřesnit hledání
  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 Autor Michelle A. Christensen, Weihui Zhou, Hong Qing, Anna Lehman, Sjaak Philipsen, Weihong Song

    Vydáno 2003
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor Patricia Birch, Shelin Adam, Nick Bansback, Rachel R. Coe, James Hicklin, Anna Lehman, K. C. Li, Jan M. Friedman

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor Adeline Jacquinet, Lydie Flasse, Manon Dohet, Romane Vanhaeren, Hélène Pendeville, Carol Saunders, Anna Lehman, Catherine Pienkowski, Karine Morcel, Daniel Guerrier, Vincent Bours, Bernard Peers

    Vydáno 2025
    Získat plný text
    Pré-impressão
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2018
    Získat plný text Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Genetic testing in monogenic early-onset atrial fibrillation

    Genetic testing in monogenic early-onset atrial fibrillation Autor 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

    Vydáno 2023
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2025
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2021
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2020
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    Mutations in NOTCH1 Cause Adams-Oliver Syndrome

    Mutations in NOTCH1 Cause Adams-Oliver Syndrome Autor 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

    Vydáno 2014
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome Autor 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

    Vydáno 2016
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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) Autor 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

    Vydáno 2022
    Získat plný text Získat plný text
    Pré-impressão
    Přidat do oblíbených
    Uloženo v:
  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) Autor 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

    Vydáno 2023
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  15. 15
    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome Autor 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

    Vydáno 2015
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2013
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2014
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  18. 18
    Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

    Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Autor 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

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  19. 19
    KDM5A mutations identified in autism spectrum disorder using forward genetics

    KDM5A mutations identified in autism spectrum disorder using forward genetics Autor 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

    Vydáno 2020
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2021
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: