Хайлтын үр дүнгүүд - Platt, Julia

A Person-Centered Approach to Cardiovascular Genetic Testing -н 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... -н 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 -н 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 -н 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 -н 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 -н 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 -н 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 -н 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 -н 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 -н 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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