Search Results - Martinez-Ojeda, Mayra

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  1. 1
    Case of Infantile Onset Spinocerebellar Ataxia Type 5

    Case of Infantile Onset Spinocerebellar Ataxia Type 5 by Jacob, Francois-Dominique, Ho, Eugenia S., Martinez-Ojeda, Mayra, Darras, Basil T., Khwaja, Omar S.

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  2. 2
    A novel mutation in the POLE2 gene causing combined immunodeficiency

    A novel mutation in the POLE2 gene causing combined immunodeficiency by Frugoni, Francesco, PhD, Dobbs, Kerry, BS, Felgentreff, Kerstin, MD, Aldhekri, Hasan, MD, Al Saud, Bandar K., MBBS, Arnaout, Rand, MBBS, Ali, Afshan Ashraf, MD, Abhyankar, Avinash, MD, PhD, Alroqi, Fayhan, MD, Giliani, Silvia, PhD, Ojeda, Mayra Martinez, MD, Tsitsikov, Erdyni, PhD, Pai, Sung-Yun, MD, Casanova, Jean Laurent, MD, PhD, Notarangelo, Luigi D., MD, Manis, John P., MD

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  3. 3
    Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

    Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy by Wooderchak-Donahue, Whitney, VanSant-Webb, Chad, Tvrdik, Tatiana, Plant, Parker, Lewis, Tracey, Stocks, Jennifer, Raney, Joshua A., Meyers, Lindsay, Berg, Alizabeth, Rope, Alan F., Yetman, Anji T., Bleyl, Steven B., Mesley, Rebecca, Bull, David A., Collins, R. Thomas, Ojeda, Mayra Martinez, Roberts, Amy, Lacro, Ronald, Woerner, Audrey, Stoler, Joan, Bayrak-Toydemir, Pinar

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  4. 4
    Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes

    Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes by Wojcik, Monica H., Bresnahan, Mairead, del Rosario, Maya C., Ojeda, Mayra Martinez, Kritzer, Amy, Fraiman, Yarden S.

    Published in Pediatric research
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  5. 5
    Polymicrogyria is Associated With Pathogenic Variants in PTEN

    Polymicrogyria is Associated With Pathogenic Variants in PTEN by Shao, Diane D., Achkar, Christelle M., Lai, Abbe, Srivastava, Siddharth, Doan, Ryan N., Rodan, Lance H., Chen, Allen Y., Poduri, Annapurna, Yang, Edward, Walsh, Christopher A., Irons, Mira B., Johnson, Ervin L., Ojeda, Mayra Martinez, Olson, Heather E., Sahin, Mustafa, Stredny, Coral M., Tan, Wen‐Hann

    Published in Annals of neurology
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  6. 6
    Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations

    Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenit... by Holtz, Alexander M., Harrington, Amanda W., McNamara, Erin R., Kielian, Agnieszka, Soul, Janet S., Martinez-Ojeda, Mayra, Levy, Philip T.

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  7. 7
    A novel mutation in the POLE2 gene causing combined immunodeficiency

    A novel mutation in the POLE2 gene causing combined immunodeficiency by Frugoni, Francesco, Dobbs, Kerry, Felgentreff, Kerstin, Aldhekri, Hasan, Al Saud, Bandar K, Arnaout, Rand, Ali, Afshan Ashraf, Abhyankar, Avinash, Alroqi, Fayhan, Giliani, Silvia, Ojeda, Mayra Martinez, Tsitsikov, Erdyni, Pai, Sung-Yun, Casanova, Jean Laurent, Notarangelo, Luigi D, Manis, John P

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