檢索結果 - Felicitas Lacbawan

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  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 由 Jacquelyn D. Riley, Gary W. Procop, Kandice Kottke‐Marchant, Robert Wyllie, Felicitas Lacbawan

    出版 2015
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  2. 2
    <i>NOD2</i>-associated autoinflammatory disease: a large cohort study

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

    出版 2015
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  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 由 Erich Roessler, Yong Ma, Maia V. Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A. Beachy, Maximilian Muenke

    出版 2009
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  4. 4
    Effectiveness of Practices to Support Appropriate Laboratory Test Utilization

    Effectiveness of Practices to Support Appropriate Laboratory Test Utilization 由 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

    出版 2017
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    Revisão
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  5. 5
    Functional analysis of mutations in TGIF associated with holoprosencephaly

    Functional analysis of mutations in TGIF associated with holoprosencephaly 由 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

    出版 2006
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  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 由 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

    出版 2008
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  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 由 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

    出版 2009
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  8. 8
    Brain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome

    Brain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome 由 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

    出版 2008
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  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 由 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

    出版 2013
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  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... 由 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

    出版 2009
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  11. 11
    Familial Encephalopathy with Neuroserpin Inclusion Bodies

    Familial Encephalopathy with Neuroserpin Inclusion Bodies 由 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

    出版 1999
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  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 由 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

    出版 2016
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  13. 13
    Familial dementia caused by polymerization of mutant neuroserpin

    Familial dementia caused by polymerization of mutant neuroserpin 由 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

    出版 1999
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  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 由 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

    出版 2007
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  15. 15
    Additional <i>EFNB1</i> mutations in craniofrontonasal syndrome

    Additional <i>EFNB1</i> mutations in craniofrontonasal syndrome 由 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

    出版 2008
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  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 由 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

    出版 2017
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  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 由 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

    出版 2009
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  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> 由 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

    出版 2012
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  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 由 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

    出版 2009
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