نتائج البحث - Jane Juusola

تنقيح النتائج
  1. 1
    mRNA Profiling for Body Fluid Identification by Multiplex Quantitative RT‐PCR*

    mRNA Profiling for Body Fluid Identification by Multiplex Quantitative RT‐PCR* حسب Jane Juusola, Jack Ballantyne

    منشور في 2007
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

    Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development حسب Carin Yates, Kristin G. Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R. Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola

    منشور في 2017
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  3. 3
    Uniparental disomy in a population of 32,067 clinical exome trios

    Uniparental disomy in a population of 32,067 clinical exome trios حسب Julie Scuffins, Jennifer Keller‐Ramey, Lindsay Dyer, Ganka Douglas, Rebecca I. Torene, Vladimir G. Gainullin, Jane Juusola, Jeanne Meck, Kyle Retterer

    منشور في 2021
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  4. 4
    De novo <i>PHIP</i>-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

    De novo <i>PHIP</i>-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features حسب Emily Webster, Megan T. Cho, Nora Alexander, Sonal Desai, Sakkubai Naidu, Mir Reza Bekheirnia, Andrea M. Lewis, Kyle Retterer, Jane Juusola, Wendy K. Chung

    منشور في 2016
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  5. 5
    A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction

    A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction حسب Qing Shao, Kristin Lindstrom, Ruo‐Yang Shi, John J. Kelly, Audrey Schroeder, Jane Juusola, Kara L. Levine, Jessica L. Esseltine, Silvia Peñuela, Michael Jackson, Dale W. Laird

    منشور في 2016
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  6. 6
    A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

    A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients حسب Sara Musa, Wafaa Eyaid, Kimberli J. Kamer, Rehab Ali, Mariam Almureikhi, Noora Shahbeck, Fatma Al Mesaifri, Nawal Makhseed, Mohamed Zakkiriah, Wafaa Al‐Shehhi, Vamsi K. Mootha, Jane Juusola, Tawfeg Ben‐Omran

    منشور في 2018
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  7. 7
    De novo mutations in <i>PURA</i> are associated with hypotonia and developmental delay

    De novo mutations in <i>PURA</i> are associated with hypotonia and developmental delay حسب Akemi Tanaka, Renkui Bai, Megan T. Cho, Kwame Anyane‐Yeboa, Priyanka Ahimaz, Ashley Wilson, Fran Kendall, Beverly N. Hay, Timothy J. M. Moss, Monica Nardini, Mislen Bauer, Kyle Retterer, Jane Juusola, Wendy K. Chung

    منشور في 2015
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  8. 8
    Mobile element insertion detection in 89,874 clinical exomes

    Mobile element insertion detection in 89,874 clinical exomes حسب Rebecca I. Torene, Kevin Galens, Shuxi Liu, Kevin J. Arvai, Carlos Borroto, Julie Scuffins, Zhancheng Zhang, Bethany Friedman, Hana Sroka, Jennifer Heeley, Erin Beaver, Lorne A. Clarke, Sarah Neil‐Sztramko, Jagdeep S. Walia, Danna Hull, Jane Juusola, Kyle Retterer

    منشور في 2020
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  9. 9
    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis حسب Francesca Mattioli, Élise Schaefer, Alex Magee, Paul R. Mark, Grazia M.S. Mancini, Klaus Dieterich, Gretchen Von Allmen, Mariëlle Alders, Charles Coutton, Marjon van Slegtenhorst, Gaëlle Vieville, Marc Engelen, Jan Maarten Cobben, Jane Juusola, Aurora Pujol, Jean‐Louis Mandel, Amélie Piton

    منشور في 2016
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  10. 10
    Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

    Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience حسب Nader Al‐Dewik, Howaida Mohd, Mariam Almureikhi, Rehab Ali, Fatma Al‐Mesaifri, Laila Mahmoud, Noora Shahbeck, Karen El‐Akouri, Mariam AlMulla, Reem Al Sulaiman, Sara Musa, Ajayeb Al‐Nabet Al‐Marri, Gabriele Richard, Jane Juusola, Benjamin D. Solomon, Fowzan S. Alkuraya, Tawfeg Ben‐Omran

    منشور في 2019
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  11. 11
    Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

    Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield حسب Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden, Deborah Copenheaver, Sandra Yang, Monica H. Wojcik, Nina B. Gold, Casie A. Genetti, Joan M. Stoler, Richard B. Parad, S. A. Roumiantsev, Olaf A. Bodamer, Alan H. Beggs, Jane Juusola, Pankaj B. Agrawal, Timothy W. Yu

    منشور في 2019
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  12. 12
    Clinical application of whole-exome sequencing across clinical indications

    Clinical application of whole-exome sequencing across clinical indications حسب Kyle Retterer, Jane Juusola, Megan T. Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G. Monaghan, Dianalee McKnight, Renkui Bai, Sharon F. Suchy, Bethany Friedman, Jackie Tahiliani, Daniel Pineda‐Alvarez, Gabriele Richard, Tracy Brandt, Eden Haverfield, Wendy K. Chung, Sherri J. Bale

    منشور في 2015
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  13. 13
    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures حسب Tiong Yang Tan, Jiří Sedmík, Mark P. Fitzgerald, Rivka Sukenik‐Halevy, Liam P. Keegan, Ingo Helbig, Lina Basel‐Salmon, Lior Cohen, Rachel Straussberg, Wendy K. Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B. Howell, Susan M. White, John Christodoulou, Mary A. O’Connell

    منشور في 2020
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  14. 14
    Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

    Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia حسب Elizabeth Bhoj, Dong Li, Margaret Harr, Simon Edvardson, Orly Elpeleg, Elizabeth Chisholm, Jane Juusola, Ganka Douglas, María J. Guillen Sacoto, Karine Siquier-Pernet, Abdelkrim Saadi, Christine Bôle‐Feysot, Patrick Nitschké, Alekhya Narravula, Maria Walke, Michele B. Horner, Debra-Lynn Day-Salvatore, Parul Jayakar, Samantha A. Schrier Vergano, Mark A. Tarnopolsky, Madhuri Hegde, Laurence Colleaux, Peter B. Crino, Hákon Hákonarson

    منشور في 2016
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  15. 15
    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction حسب Julia Wang, Justine Rousseau, Emily Kim, Sophie Ehresmann, Yi-Ting Cheng, Lita Duraine, Zhongyuan Zuo, Ye-Jin Park, David Li‐Kroeger, Weimin Bi, Lee-Jun Wong, Jill A. Rosenfeld, Joseph G. Gleeson, Eissa Faqeih, Fowzan S. Alkuraya, Klaas J. Wierenga, Jiani Chen, Alexandra Afenjar, Caroline Nava, Diane Doummar, Boris Keren, Jane Juusola, Markus Grompe, Hugo J. Bellen, Philippe M. Campeau

    منشور في 2019
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  16. 16
    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss حسب Akemi Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo D. Garnica, Edward S. Gratz, Matthew A. Deardorff, Alisha Wilkins, Xilma R. Ortiz‐González, Katherine D. Mathews, Karin Panzer, Eva H. Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker‐Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

    منشور في 2015
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  17. 17
    De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

    De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions حسب Brieana Fregeau, Bum‐Joon Kim, Andrés Hernández, Valerie K. Jordan, Megan T. Cho, Rhonda E. Schnur, Kristin G. Monaghan, Jane Juusola, Jill A. Rosenfeld, Elizabeth Bhoj, Elaine H. Zackai, Stephanie Sacharow, Kristin Barañano, Daniëlle G.M. Bosch, Bert B.A. de Vries, Kristin Lindstrom, Audrey Schroeder, Philip James, Peggy Kulch, Seema R. Lalani, Mieke M. van Haelst, Koen L.I. van Gassen, Ellen van Binsbergen, A. James Barkovich, Daryl A. Scott, Elliott H. Sherr

    منشور في 2016
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  18. 18
    SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

    SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns حسب Tara Wenger, Abbey Scott, Lukas Kruidenier, Megan Sikes, Alexandra Keefe, Kati J. Buckingham, Colby T. Marvin, Kathryn M. Shively, Tamara Bacus, Olivia Sommerland, Kailyn Anderson, Heidi Gildersleeve, Chayna Davis, Jamie Love‐Nichols, Katherine E. MacDuffie, Danny E. Miller, Joon‐Ho Yu, Amy Snook, Britt Johnson, David L. Veenstra, Julia Parish-Morris, Kirsty McWalter, Kyle Retterer, Deborah Copenheaver, Bethany Friedman, Jane Juusola, Erin Ryan, Renee Varga, Dan Doherty, Katrina M. Dipple, Jessica X. Chong, Paul Kruszka, Michael J. Bamshad

    منشور في 2025
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  19. 19
    Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

    Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function حسب Zhiwen Xu, Wing‐Sze Lo, David B. Beck, Luise A. Schuch, Monika Oláhová, Robert Kopajtich, Yeeting E. Chong, Charlotte L. Alston, Elias Seidl, Liting Zhai, Ching-Fun Lau, Donna M. Timchak, Charles A. LeDuc, Alain Borczuk, Andrew F. Teich, Jane Juusola, Christina Sofeso, Christoph Müller, Germaine Pierre, Tom Hilliard, Peter D. Turnpenny, Matias Wagner, Matthias Kappler, Frank Brasch, John Paul Bouffard, Leslie A. Nangle, Xiang‐Lei Yang, Mingjie Zhang, Robert W. Taylor, Holger Prokisch, Matthias Griese, Wendy K. Chung, Paul Schimmel

    منشور في 2018
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  20. 20
    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism حسب Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark A. Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Wu‐Lin Charng, Margaret Drummond‐Borg, Mohammad K. Eldomery, Ayman W. El‐Hattab, Mohammed A. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, R Myers, Gregory M. Cooper, Kerstin Kutsche

    منشور في 2016
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: