Výsledky vyhledávání - Claudia Gonzaga‐Jauregui

Upřesnit hledání
  1. 1
    Human Genome Sequencing in Health and Disease

    Human Genome Sequencing in Health and Disease Autor Claudia Gonzaga‐Jauregui, James R. Lupski, Richard A. Gibbs

    Vydáno 2011
    Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

    Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis Autor Piotr Dittwald, Tomasz Gambin, Claudia Gonzaga‐Jauregui, Claudia M.B. Carvalho, James R. Lupski, Paweł Stankiewicz, Anna Gambin

    Vydáno 2012
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

    Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America Autor Roberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, João Bosco Oliveira, Mariana Rico-Restrepo, Paula Rozenfeld, Ignacio Zarante, Claudia Gonzaga‐Jauregui

    Vydáno 2022
    Získat plný text Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

    Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population Autor Claudia Gonzaga‐Jauregui, Candace Gamble, Bo Yuan, Samantha Penney, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Jacqueline T. Hecht

    Vydáno 2014
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Inhibition of Angiopoietin-Like Protein 3 With Evinacumab in Subjects With High and Severe Hypertriglyceridemia

    Inhibition of Angiopoietin-Like Protein 3 With Evinacumab in Subjects With High and Severe Hypertriglyceridemia Autor Zahid Ahmad, Robert Pordy, Daniel J. Rader, Daniel Gaudet, Shazia Ali, Claudia Gonzaga‐Jauregui, Manish P. Ponda, Brad Shumel, Poulabi Banerjee, Richard L. Dunbar

    Vydáno 2021
    Získat plný text
    Carta
    Přidat do oblíbených
    Uloženo v:
  6. 6
    High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution

    High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution Autor Yehudit Hasin-Brumshtein, Tsviya Olender, Miriam Khen, Claudia Gonzaga‐Jauregui, Philip M. Kim, Alexander E. Urban, M Snyder, Mark Gerstein, Doron Lancet, Jan O. Korbel

    Vydáno 2008
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    Addressing the challenges of polygenic scores in human genetic research

    Addressing the challenges of polygenic scores in human genetic research Autor John Novembre, Catherine M. Stein, Samira Asgari, Claudia Gonzaga‐Jauregui, Andrew P. Landstrom, Amy A. Lemke, Jun Li, Chloe Mighton, Matthew R. Taylor, Sarah A. Tishkoff

    Vydáno 2022
    Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  8. 8
    Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

    Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy Autor James R. Lupski, Claudia Gonzaga‐Jauregui, Yaping Yang, Matthew N. Bainbridge, Shalini N. Jhangiani, Christian Buhay, Christie Kovar, Min Wang, Alicia Hawes, Jeffrey G. Reid, Christine M. Eng, Donna M. Muzny, Richard A. Gibbs

    Vydáno 2013
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold

    NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold Autor Philip H. Iffland, Mariah E. Everett, Katherine Cobb-Pitstick, Lauren E. Bowser, Allan E. Barnes, Janice K. Babus, Andrea J. Romanowski, Marianna Baybis, Soad Elziny, Erik G. Puffenberger, Claudia Gonzaga‐Jauregui, Alexandros Poulopoulos, Vincent J. Carson, Peter B. Crino

    Vydáno 2022
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  10. 10
    Whole-Genome Sequencing for Optimized Patient Management

    Whole-Genome Sequencing for Optimized Patient Management Autor Matthew N. Bainbridge, Wojciech Wiszniewski, David R. Murdock, Jennifer Friedman, Claudia Gonzaga‐Jauregui, Irene Newsham, Jeffrey G. Reid, John K. Fink, Margaret Morgan, Marie‐Claude Gingras, Donna M. Muzny, Linh D. Hoang, Shahed Yousaf, James R. Lupski, Richard A. Gibbs

    Vydáno 2011
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension

    Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension Autor Na Zhu, Michael W. Pauciulo, Carrie L. Welch, Katie A. Lutz, Anna W. Coleman, Claudia Gonzaga‐Jauregui, Jiayao Wang, Joseph M. Grimes, Lisa J. Martin, Hua He, Pah Biobank Enrolling Centers’ Investigators, Yufeng Shen, Wendy K. Chung, William C. Nichols

    Vydáno 2019
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  12. 12
    Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial

    Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial Autor Robert S. Rosenson, Daniel Gaudet, Christie M. Ballantyne, Seth J. Baum, Jean Bergeron, Erin E. Kershaw, Patrick M. Moriarty, Paolo Rubba, David C. Whitcomb, Poulabi Banerjee, Andrew Gewitz, Claudia Gonzaga‐Jauregui, Jennifer McGinniss, Manish P. Ponda, Robert Pordy, Jian Zhao, Daniel J. Rader

    Vydáno 2023
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  13. 13
    Mutations in<i>VRK1</i>Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly

    Mutations in<i>VRK1</i>Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly Autor Claudia Gonzaga‐Jauregui, Timothy Lotze, Leila Jamal, Samantha Penney, Ian M. Campbell, Davut Pehli̇van, Jill V. Hunter, Suzanne L. Woodbury, Gerald V. Raymond, Adekunle M. Adesina, Shalini N. Jhangiani, Jeffrey G. Reid, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Richard A. Gibbs, Wojciech Wiszniewski

    Vydáno 2013
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  14. 14
    Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

    Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease Autor Julie Horowitz, Neil Warner, Jeffrey Staples, Eileen Crowley, Nehal Gosalia, Ryan Murchie, Cristopher V. Van Hout, Karoline Fiedler, Gabriel Welch, Alejandra King, Jeffrey G. Reid, John D. Overton, Aris Baras, Alan R. Shuldiner, Anne M. Griffiths, Omri Gottesman, Aleixo M. Muise, Claudia Gonzaga‐Jauregui

    Vydáno 2021
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  15. 15
    Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort

    Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort Autor Claudia Gonzaga‐Jauregui, Wenzhen Ge, Jeffrey Staples, Cristopher V. Van Hout, Ashish Yadav, Ryan Colonie, Joseph B. Leader, H. Lester Kirchner, Michael F. Murray, Jeffrey G. Reid, David J. Carey, John D. Overton, Alan R. Shuldiner, Omri Gottesman, Steve Gao, Jesper Gromada, Aris Baras, Judith Y. Altarejos

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  16. 16
    Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

    Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability Autor Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A. J. Weterman, Claudia Gonzaga‐Jauregui, Charles F. Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauß, Klaus-Henning Krause, Mehrdad Khajavi, Jan Posadka, Antoon Vandenberghe, Francesc Palau, Lionel Van Maldergem, Frank Baas, Vincent Timmerman, James R. Lupski

    Vydáno 2010
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  17. 17
    Recurrent DNA inversion rearrangements in the human genome

    Recurrent DNA inversion rearrangements in the human genome Autor Margarita Flores, Lucía Morales, Claudia Gonzaga‐Jauregui, Rocío Domínguez-Vidaña, Cinthya Zepeda, Omar Yáñez, M. Cristina Gutiérrez, Tzitziki Lemus, David Valle‐García, Ma. Carmen Avila, Daniel Blanco-Melo, Sofía Medina-Ruiz, Karla Meza, Erandi Ayala, Delfino García, Patricia Bustos, Víctor González, Lourdes Girard, Teresa Tusié‐Luna, Guillermo Dávila, Rafael Palacios

    Vydáno 2007
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  18. 18
    Addressing underrepresentation in genomics research through community engagement

    Addressing underrepresentation in genomics research through community engagement Autor Amy A. Lemke, Edward D. Esplin, Aaron J. Goldenberg, Claudia Gonzaga‐Jauregui, Neil A. Hanchard, Julie Harris-Wai, Justin E. Ideozu, Rosario Isasi, Andrew P. Landstrom, Anya E. R. Prince, Erin Turbitt, Maya Sabatello, Samantha A. Schrier Vergano, Matthew R.G. Taylor, Joon‐Ho Yu, Kyle B. Brothers, Nanibaa’ A. Garrison

    Vydáno 2022
    Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  19. 19
    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures Autor Susanne Horn, Margaret Au, Lina Basel‐Vanagaite, Pınar Bayrak‐Toydemir, Alexander Chapin, Lior Cohen, Mariet W. Elting, John M. Graham, Claudia Gonzaga‐Jauregui, Osnat Konen, Max Holzer, Johannes R. Lemke, Christine E. Miller, Linda K. Rey, Nicole I. Wolf, Marjan M. Weiss, Quinten Waisfisz, Ghayda Mirzaa, Dagmar Wieczorek, Heinrich Sticht, Rami Abou Jamra

    Vydáno 2019
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  20. 20
    Genomic diagnostics within a medically underserved population: efficacy and implications

    Genomic diagnostics within a medically underserved population: efficacy and implications Autor Kevin A. Strauss, Claudia Gonzaga‐Jauregui, Karlla W. Brigatti, Katie B. Williams, Alejandra King, Cristopher V. Van Hout, Donna L. Robinson, Millie Young, Kavita Praveen, Adam D. Heaps, Mindy Kuebler, Aris Baras, Jeffrey G. Reid, John D. Overton, Frederick E. Dewey, Robert N. Jinks, Ian Finnegan, Scott Mellis, Alan R. Shuldiner, Erik G. Puffenberger

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: