Výsledky vyhledávání - Platt, Julia

A Person-Centered Approach to Cardiovascular Genetic Testing Autor Platt, Julia

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Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-unc... Autor Ronvelia, Diti, Greenwood, Jaclyn, Platt, Julia, Hakim, Simin, Zaragoza, Michael V.

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Genotype-Phenotype studies of VCP-associated Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia Autor Mehta, Sarju G., Khare, Manaswitha, Ramani, Rupal, Watts, Giles D. J., Simon, Mariella, Osann, Kathryn E., Donkervoort, Sandra, Dec, Eric, Nalbandian, Angele, Platt, Julia, Pasquali, Marzia, Wang, Annabel, Mozaffar, Tahseen, Smith, Charles D., Kimonis, Virginia E.

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Variant Interpretation for Dilated Cardiomyopathy (DCM): Refinement of the ACMG/ClinGen Guidelines for the DCM Precision Medicine Study Autor Morales, Ana, Kinnamon, Daniel D., Jordan, Elizabeth, Platt, Julia, Vatta, Matteo, Dorschner, Michael O., Starkey, Carl, Mead, Jonathan, Ai, Tomohiko, Burke, Wylie, Gastier-Foster, Julie, Jarvik, Gail P., Rehm, Heidi L., Nickerson, Deborah A., Hershberger, Ray E.

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Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup Autor Strauss, Kevin A., DuBiner, Lauren, Simon, Mariella, Zaragoza, Michael, Sengupta, Partho P., Li, Peng, Narula, Navneet, Dreike, Sandra, Platt, Julia, Procaccio, Vincent, Ortiz-González, Xilma R., Puffenberger, Erik G., Kelley, Richard I., Morton, D. Holmes, Narula, Jagat, Wallace, Douglas C.

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Mono- and Bi-allelic Protein Truncating Variants in Alpha-actinin 2 cause Cardiomyopathy through Distinct Mechanisms Autor Lindholm, Malene E., Jimenez-Morales, David, Zhu, Han, Seo, Kinya, Amar, David, Zhao, Chunli, Raja, Archana, Madhvani, Roshni, Abramowitz, Sarah, Espenel, Cedric, Sutton, Shirley, Caleshu, Colleen, Berry, Gerald J., Motonaga, Kara S., Dunn, Kyla, Platt, Julia, Ashley, Euan A., Wheeler, Matthew T.

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Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans Autor Ji, Fuyun, Sharpley, Mark S., Derbeneva, Olga, Alves, Leonardo Scherer, Qian, Pin, Wang, Yaoli, Chalkia, Dimitra, Lvova, Maria, Xu, Jiancheng, Yao, Wei, Simon, Mariella, Platt, Julia, Xu, Shiqin, Angelin, Alessia, Davila, Antonio, Huang, Taosheng, Wang, Ping H., Chuang, Lee-Ming, Moore, Lorna G., Qian, Guisheng, Wallace, Douglas C.

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De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay Autor Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.

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An assessment of the role of loss of function Vinculin (VCL) variants in inherited cardiomyopathy Autor Hawley, Megan H., Almontashiri, Naif, Biesecker, Leslie G., Berger, Natalie, Chung, Wendy K., Garcia, John, Grebe, Theresa A., Kelly, Melissa A., Lebo, Matthew S., Macaya, Daniela, Mei, Hui, Platt, Julia, Richard, Gabi, Ryan, Ashley, Thomson, Kate L., Vatta, Matteo, Walsh, Roddy, Ware, James S., Wheeler, Matthew, Zouk, Hana, Mason-Suares, Heather, Funke, Birgit

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Mutations in NGLY1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation (ERAD) Pathway Autor Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan, Scavina, Mena, Walter, Rhonda S., Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H., Need, Anna C., Oviedo, Angelica, Schaaf, Christian P., Boyle, Sean, Butte, Atul J., Chen, Rong, Clark, Michael J., Haraksingh, Rajini, Cowan, Tina M., He, Ping, Langlois, Sylvie, Zoghbi, Huda Y., Snyder, Michael, Gibbs, Richard, Freeze, Hudson H., Goldstein, David B.

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