Risultati della ricerca - Lance Rodan

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  1. 1
    P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis

    P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis di Joseph Biddle, Teresa Campbell, Alba Sanchis-Juan, Gabrielle Lemire, Lance Rodan, Melanie O'Leary, Christina Austin-Tse, Anne O'Donnell-Luria, Laurie Sadler

    Pubblicazione 2024-01-01
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  2. 2
    Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings

    Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings di Christopher M. McGraw, Sonal Mahida, Parul Jayakar, Hyun Yong Koh, Alan Taylor, Trevor Resnick, Lance Rodan, Marc A. Schwartz, Ayesha Ejaz, Vijay G. Sankaran, Gerard Berry, Annapurna Poduri

    Pubblicazione 2021-03-01
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  3. 3
    P208: Insights into diagnostic yield and novel genetic etiologies for unilateral polymicrogyria

    P208: Insights into diagnostic yield and novel genetic etiologies for unilateral polymicrogyria di Abbe Lai, Jennifer Neil, Lance Rodan, Achkar Moufawad El Achkar, Shyam Akula, Anthony Barkovich, Allen Chen, Diane Shao, Kimberly Wiltrout, Ganeshwaran Mochida, Heather Olson, Edward Yang, Annapurna Poduri, Christopher Walsh

    Pubblicazione 2024-01-01
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  4. 4
    O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients*

    O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients* di Dayebgadoh Gerald, Silvia Tortorelli, Amy White, Dawn Peck, Gisele Pino, April Studinski, Jason Eckerman, Bimal Chaudhari, Betsy Schmalz, Lance Rodan, Angela Sun, Emily Shelkowitz, Matthew Schultz, Devin Oglesbee, Dimitar Gavrilov, Patricia Hall, Dietrich Matern, Silvia Tortorelli

    Pubblicazione 2023-01-01
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  5. 5
    Mendelian etiologies identified with whole exome sequencing in cerebral palsy

    Mendelian etiologies identified with whole exome sequencing in cerebral palsy di Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian Snyder, Scellig S. D. Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O'Donnell‐Luria, Alex R. Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C. Kruer, Mustafa Sahin, Annapurna Poduri, Siddharth Srivastava

    Pubblicazione 2022-02-01
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  6. 6
    Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

    Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders di Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu

    Pubblicazione 2023-07-01
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