Ngā hua rapu - Felicitas Lacbawan

  • E whakaatu ana i te 1 - 19 hua o te 19
Whakamahine hua
  1. 1
    Improving Molecular Genetic Test Utilization through Order Restriction, Test Review, and Guidance

    Improving Molecular Genetic Test Utilization through Order Restriction, Test Review, and Guidance mā Jacquelyn D. Riley, Gary W. Procop, Kandice Kottke‐Marchant, Robert Wyllie, Felicitas Lacbawan

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  2. 2
    <i>NOD2</i>-associated autoinflammatory disease: a large cohort study

    <i>NOD2</i>-associated autoinflammatory disease: a large cohort study mā Qingping Yao, Min Shen, Christine McDonald, Felicitas Lacbawan, Rocio Moran, Bo Shen

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  3. 3
    Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

    Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans mā Erich Roessler, Yong Ma, Maia V. Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A. Beachy, Maximilian Muenke

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  4. 4
    Effectiveness of Practices to Support Appropriate Laboratory Test Utilization

    Effectiveness of Practices to Support Appropriate Laboratory Test Utilization mā Matthew L. Rubinstein, Robert Hirsch, Kakali Bandyopadhyay, Bereneice M. Madison, Thomas H. Taylor, Anne Ranne, Millie L. Linville, Keri Donaldson, Felicitas Lacbawan, Nancy E. Cornish

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  5. 5
    Functional analysis of mutations in TGIF associated with holoprosencephaly

    Functional analysis of mutations in TGIF associated with holoprosencephaly mā Kênia Balbi El-Jaick, Shannon Powers, Laurent Bartholin, Kenneth R. Myers, Jin S. Hahn, Iêda M. Orioli, Maia V. Ouspenskaia, Felicitas Lacbawan, Erich Roessler, David Wotton, Maximilian Muenke

    I whakaputaina 2006
    Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  6. 6
    Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly

    Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly mā Erich Roessler, Maia V. Ouspenskaia, Jayaprakash D. Karkera, Jorge I. Vélez, Amy Kantipong, Felicitas Lacbawan, Peter N. Bowers, John W. Belmont, Jeffrey A. Towbin, Elizabeth Goldmuntz, Benjamin Feldman, Maximilian Muenke

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  7. 7
    The full spectrum of holoprosencephaly-associated mutations within the<i>ZIC2</i>gene in humans predicts loss-of-function as the predominant disease mechanism

    The full spectrum of holoprosencephaly-associated mutations within the<i>ZIC2</i>gene in humans predicts loss-of-function as the predominant disease mechanism mā Erich Roessler, Felicitas Lacbawan, Christ��le Dubourg, Aimée Paulussen, J. Herbergs, Ute Hehr, Claude Bendavid, Nan Zhou, Maia V. Ouspenskaia, Sherri J. Bale, Sylvie Odent, V�ronique David, Maximilian Muenke

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  8. 8
    Brain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome

    Brain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome mā Joan C. Han, Qing‐Rong Liu, MaryPat Jones, Rebecca L. Levinn, Carolyn M. Menzie, Kyra Jefferson‐George, Diane C. Adler‐Wailes, Ethan L. Sanford, Felicitas Lacbawan, George R. Uhl, Owen M. Rennert, Jack A. Yanovski

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  9. 9
    Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of<i>FKBP10</i> Mutations

    Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of<i>FKBP10</i> Mutations mā Aileen M. Barnes, Geraldine Duncan, MaryAnn Weis, William Paton, Wayne A. Cabral, Edward L. Mertz, Elena Makareeva, Michael J. Gambello, Felicitas Lacbawan, Sergey Leikin, Andrzej Fertala, David R. Eyre, Sherri J. Bale, Joan C. Marini

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  10. 10
    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand... mā Erich Roessler, Kênia Balbi El-Jaick, Christèle Dubourg, Jorge I. Vélez, Benjamin D. Solomon, Daniel Pineda‐Alvarez, Felicitas Lacbawan, Nan Zhou, Maia V. Ouspenskaia, Aimée Paulussen, Hubert Smeets, Ute Hehr, Claude Bendavid, Sherri J. Bale, Sylvie Odent, Véronique David, Maximilian Muenke

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  11. 11
    Familial Encephalopathy with Neuroserpin Inclusion Bodies

    Familial Encephalopathy with Neuroserpin Inclusion Bodies mā Richard L. Davis, P D Holohan, Antony E. Shrimpton, Arthur H. Tatum, John Daucher, George H. Collins, Robert B. Todd, Charles B. Bradshaw, Paul F. Kent, David Feiglin, Arthur L. Rosenbaum, Mark S. Yerby, Cheng‐Mei Shaw, Felicitas Lacbawan, Daniel A. Lawrence

    I whakaputaina 1999
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  12. 12
    Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

    Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta mā Wayne A. Cabral, Masaki Ishikawa, Matthias Garten, Elena Makareeva, Brandi M. Sargent, MaryAnn Weis, Aileen M. Barnes, Emma Webb, Nicholas J Shaw, Leena Ala‐Kokko, Felicitas Lacbawan, Wolfgang Högler, Sergey Leikin, Paul S. Blank, Joshua Zimmerberg, David R. Eyre, Yoshihiko Yamada, Joan C. Marini

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  13. 13
    Familial dementia caused by polymerization of mutant neuroserpin

    Familial dementia caused by polymerization of mutant neuroserpin mā Richard L. Davis, Antony E. Shrimpton, P D Holohan, Charles B. Bradshaw, David Feiglin, George H. Collins, P. Sonderegger, Jochen Kinter, Lyn Marie Becker, Felicitas Lacbawan, Donna M. Krasnewich, Maximilian Muenke, Daniel A. Lawrence, Mark S. Yerby, Cheng‐Mei Shaw, Bibek Gooptu, Peter R. Elliott, J.T. Finch, Robin W. Carrell, David A. Lomas

    I whakaputaina 1999
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  14. 14
    Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

    Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature mā Emily S Doherty, Felicitas Lacbawan, Donald W. Hadley, Carmen C. Brewer, Christopher Zalewski, H. Jeff Kim, Beth Solomon, Kenneth N. Rosenbaum, Demetrio L. Domingo, Thomas C. Hart, Brian P. Brooks, LaDonna Immken, R. Brian Lowry, Virginia Kimonis, Alan Shanske, Fernanda Sarquis Jehee, Maria Rita Passos‐Bueno, Carol Knightly, Donna M. McDonald‐McGinn, Elaine H. Zackai, Maximilian Muenke

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  15. 15
    Additional <i>EFNB1</i> mutations in craniofrontonasal syndrome

    Additional <i>EFNB1</i> mutations in craniofrontonasal syndrome mā Deeann Wallis, Felicitas Lacbawan, Mahim Jain, Vazken M. Der Kaloustian, Carlos Eduardo Steiner, John B. Moeschler, H. Wolfgang Losken, Ilkka Kaitila, Stephen Cantrell, Virginia K. Proud, John C. Carey, Donald W. Day, Dorit Lev, Ahmad S. Teebi, Luther K. Robinson, H. Eugene Hoyme, N.A. Al‐Torki, Jacqueline Siegel‐Bartelt, John B. Mulliken, Nathaniel H. Robin, Dolores Saavedra, Elaine H. Zackai, Maximilian Muenke

    I whakaputaina 2008
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  16. 16
    Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Through Family-Based Outreach

    Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Through Family-Based Outreach mā Goli Samimi, Marcus Q. Bernardini, Lawrence C. Brody, Charlisse Caga-Anan, Ian Campbell, Georgia Chenevix‐Trench, Fergus J. Couch, Michael Dean, Joanne A. de Hullu, Susan M. Domchek, Ronny Drapkin, Heather Spencer Feigelson, Michael Friedlander, Mia M. Gaudet, Marline G. Harmsen, Karen Hurley, Paul A. James, Janice S. Kwon, Felicitas Lacbawan, Stéphanie Lheureux, L. Phuong, Leah E. Mechanic, Lori M. Minasian, Evan R. Myers, Mark E. Robson, Susan J. Ramus, Lisa F. Rezende, Patricia A. Shaw, Thomas P. Slavin, Elizabeth M. Swisher, Masataka Takenaka, David D.L. Bowtell, Mark E. Sherman

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  17. 17
    Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

    Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals mā B. D. Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J. Clegg, Mauricio R. Delgado, Kenneth N. Rosenbaum, Christèle Dubourg, Véronique David, Ann Haskins Olney, Lore Wehner, Ute Hehr, Swarna Bale, A. Paulussen, Hubert J.M. Smeets, Emily Hardisty, Anna Tylki‐Szymańska, Ewa Pronicka, Marcell Clemens, Elizabeth McPherson, Raoul C. M. Hennekam, Jin S. Hahn, Elaine Stashinko, Eric Levey, Dagmar Wieczorek, Elizabeth Roeder, Can Schell-Apacik, Carol W. Booth, R. L. Thomas, Sue Kenwrick, Derek A. T. Cummings, Sophia M. Bous, Amelia A. Keaton, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Rui Long, Jorge I. Vélez, Daniel Pineda‐Alvarez, Sylvie Odent, Erich Roessler, Maximilian Muenke

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  18. 18
    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i>

    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i> mā Benjamin D. Solomon, Kelly Bear, Adrian Wyllie, Amelia A. Keaton, Christèle Dubourg, Véronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimée Paulussen, Nancy J. Clegg, Mauricio R. Delgado, Sherri J. Bale, Felicitas Lacbawan, Holly H Ardinger, Arthur S. Aylsworth, Ntombenhle Louisa Bhengu, Stephen R. Braddock, Karen Brookhyser, Barbara K. Burton, Harald Gaspar, Art Grix, Dafne Dain Gandelman Horovitz, Erin Kanetzke, Hülya Kayserili, Dorit Lev, Sarah M. Nikkel, Mary E. Norton, Richard M. Roberts, Howard M. Saal, G. Bradley Schaefer, Adele Schneider, E. Smith, Ellen Sowry, M. Anne Spence, Stavit A. Shalev, Carlos Eduardo Steiner, Elizabeth M. Thompson, Thomas Winder, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Daniel Pineda‐Alvarez, Erich Roessler, Maximilian Muenke

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  19. 19
    Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

    Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function mā Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler, Kênia Balbi El-Jaick, Sabina Domené, Jorge I. Vélez, Nan Zhou, Donald W. Hadley, Joan Z. Balog, R Long, Alan Fryer, Wendy E. Smith, SA Omar, Scott D. McLean, Katie Clarkson, Angie Lichty, Nancy J. Clegg, Mauricio R. Delgado, Eric Levey, Elaine Stashinko, Lorraine Potocki, Margot I VanAllen, Jill Clayton‐Smith, Dian Donnai, Diana W. Bianchi, Pétur Benedikt Júlíusson, Pål R. Njølstad, Han G. Brunner, John C. Carey, Ute Hehr, Jörg Müsebeck, Peter Wieacker, A Postra, Raoul C. M. Hennekam, M-J H van den Boogaard, Arie van Haeringen, Aimée Paulussen, J. Herbergs, Connie Schrander‐Stumpel, Andreas Janecke, David Chitayat, Jin S. Hahn, Donna M. McDonald‐McGinn, Elaine H. Zackai, William B. Dobyns, Maximilian Muenke

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:

Ngā utauta rapu: