检索结果 - John Bernat

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  1. 1
    Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations

    Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations 由 Mark W. Russell, Maide Ö. Raeker, Sarah Geisler, Peedikayil E. Thomas, Tracy Simmons, John Bernat, Thor Thorsson, Jeffrey W. Innis

    出版 2014
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  2. 2
    Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease

    Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease 由 Derralynn Hughes, Derlis Gonzalez, Gustavo Maegawa, John Bernat, Myrl Holida, Pilar Giraldo, Mohamed G. Atta, Raul Chertkoff, Sari Alon, Einat Almon, Rossana Rocco, Özlem Göker-Alpan

    出版 2023
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  3. 3
    Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

    Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes 由 Kacie N. Riley, Lisa M. Catalano, John Bernat, Stacie D. Adams, Donna M. Martin, Seema R. Lalani, Ankita Patel, Rachel D. Burnside, Jeffrey W. Innis, M. Katharine Rudd

    出版 2015
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  4. 4
    Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

    Genetic analysis of CHARGE syndrome identifies overlapping molecular biology 由 Amanda Moccia, Anshika Srivastava, Jennifer Skidmore, John Bernat, Marsha M. Wheeler, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Margaret A. Hefner, Donna M. Martin, Stephanie Bielas

    出版 2018
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  5. 5
    The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

    The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? 由 Neal J. Weinreb, Özlem Göker-Alpan, Priya S. Kishnani, Nicola Longo, T. Burrow, John Bernat, Punita Gupta, Nadene Henderson, Hélio Pedro, Carlos E. Prada, Divya Vats, Ravi Ramesh Pathak, Ekaterina Wright, Can Fıçıcıoğlu

    出版 2022
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  6. 6
    Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)

    Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS) 由 Gregory E. Crawford, Ingeborg Holt, James R. Whittle, Bryn D. Webb, Denise S. Tai, Sean Davis, Elliott H. Margulies, YiDong Chen, John Bernat, David Ginsburg, Daixing Zhou, Shujun Luo, Thomas J. Vasicek, Mark J. Daly, Tyra G. Wolfsberg, Francis S. Collins

    出版 2005
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  7. 7
    P142: Efficacy, safety and tolerability of chenodeoxycholic acid in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized, placebo-controlled phase 3 study*

    P142: Efficacy, safety and tolerability of chenodeoxycholic acid in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized, placebo-controlled phase 3 study* 由 Andrea E. DeBarber, Yaz Y. Kisanuki, Paulo Ribeiro Nóbrega, Ryan Himes, Suman Jayadev, John Bernat, Vikram Prakash, James B. Gibson, Austin Larson, Paulo Victor Sgobbi de Souza, Edward Murphy, Brian Fedor, Cheryl Wong Po Foo, Rana Dutta, Michael J. Imperiale, Jolan Terner-Rosenthal, Will Garner, Pamela Vig, P. Barton Duell, Sarah Perez, Ritesh Ramdhani, Jonas Alex Morales Saute

    出版 2024
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  8. 8
    Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): a randomized withdrawal, double-blind, placebo-controlled, crossover phase 3 study

    Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): a randomized withdrawal, double-blind, placebo-c... 由 Yaz Y. Kisanuki, Paulo Ribeiro Nóbrega, Ryan Himes, Suman Jayadev, John Bernat, Vikram Prakash, James B. Gibson, Austin Larson, Paulo Victor Sgobbi de Souza, Andrea E. DeBarber, Edward Murphy, Brian Fedor, Cheryl Wong Po Foo, Rana Dutta, Michael J. Imperiale, Will Garner, Joanne Quan, Pamela Vig, P. Barton Duell, Sarah Perez, Ritesh Ramdhani, Jonas Alex Morales Saute

    出版 2025
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  9. 9
    Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants

    Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants 由 Valerie K. Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica L. Giordano, Ronald J. Wapner, Tuğçe B. Balcı, Jennefer N. Carter, John Bernat, Amanda Moccia, Anshika Srivastava, Donna M. Martin, Stephanie Bielas, John Pappas, Melissa Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M. Lewis, Fernando Scaglia, Jennefer N. Kohler, Jonathan A. Bernstein, Annika M. Dries, Jill A. Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H. Sherr, Weimin Bi, Daryl A. Scott

    出版 2018
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  10. 10
    Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

    Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALA... 由 Eric Wallace, Özlem Göker-Alpan, William R. Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn Hughes, Robert J. Hopkin, Camilla Tøndel, Mirjam Langeveld, Pilar Giraldo, Antonio Pisani, Dominique P. Germain, Ankit Mehta, Patrick Deegan, Mária Judit Molnár, Damara Ortiz, Ana Jovanović, Michael Muriello, Bruce A. Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Geberhiwot, Ilkka Kantola, Jasmine Knoll, Stephen Waldek, Khan Nedd, Amel Karaa, Einat Brill‐Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, Anat Sakov, David G. Warnock

    出版 2023
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  11. 11
    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features 由 Cara Skraban, Constance Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, Ping Yee Billie Au, Amber Begtrup, John Bernat, Lynne M. Bird, Kajia Cao, Arjan P.M. de Brouwer, Elizabeth Denenberg, Ganka Douglas, Kristin McDonald Gibson, Katheryn Grand, Alice Goldenberg, A. Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David Markie, Martina Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire Turner, Nienke E. Verbeek, Laurence E. Walsh, Taylor Warner, Patricia G. Wheeler, Dagmar Wieczorek, Alisha Wilkens, Evelien Zonneveld‐Huijssoon, Tjitske Kleefstra, Stephen P. Robertson, Avni Santani, Koen L.I. van Gassen, Matthew A. Deardorff

    出版 2017
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  12. 12
    Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)

    Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics) 由 Amy Nisselle, Monika Janinski, Melissa Martyn, Belinda McClaren, Nadia Kaunein, Jane Maguire, Erin Rooney Riggs, Kristine Barlow‐Stewart, Andrea Belcher, John Bernat, Stephanie Best, Michelle Bishop, June C. Carroll, Martina C. Cornel, Vajira H. W. Dissanayake, Agnes E. Dodds, Kate Dunlop, Gunjan Garg, Russell Gear, Debra Graves, Ken Knight, Bruce R. Korf, Dhavendra Kumar, Mercy Laurino, Alan Ma, Jane Maguire, Andrew Mallett, Maria McCarthy, Alison McEwen, Nicola Mulder, Chirag Patel, Catherine Quinlan, Kate Reed, Erin Rooney Riggs, Ingrid Sinnerbrink, Anne Slavotinek, Vijayaprakash Suppiah, Bronwyn Terrill, Edward S. Tobias, Emma Tonkin, Steve Trumble, Tina‐Marié Wessels, Sylvia A. Metcalfe, Helen Jordan, Clara Gaff

    出版 2021
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