Kết quả tìm kiếm - Niyazov, Dmitriy

Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease Bằng Niyazov, Dmitriy, Lara, Diego A.

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Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment Bằng Niyazov, Dmitriy M., Kahler, Stephan G., Frye, Richard E.

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Fenestration Surgery for Otosclerosis: CT Findings of an Old Surgical Procedure Bằng Niyazov, Dmitriy, Borges, Alexandra, Ishiyama, Akira, Zaragoza, Edward, Lufkin, Robert

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Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder Bằng Rose, Shannon, Niyazov, Dmitriy M., Rossignol, Daniel A., Goldenthal, Michael, Kahler, Stephen G., Frye, Richard E.

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Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations Bằng Gistelinck, Charlotte, Weis, MaryAnn, Rai, Jyoti, Schwarze, Ulrike, Niyazov, Dmitriy, Song, Kit M, Byers, Peter H, Eyre, David R

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Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23) Bằng Zagnoli-Vieira, Guido, Bruni, Francesco, Thompson, Kyle, He, Langping, Walker, Sarah, de Brouwer, Arjan P.M., Taylor, Robert, Niyazov, Dmitriy, Caldecott, Keith W.

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Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25 Bằng Burkardt, Deepika D’Cunha, Rosenfeld, Jill A., Helgeson, Maria, Angle, Brad, Banks, Valerie, Smith, Wendy, Gripp, Karen W., Moline, Jessica, Moran, Rocio, Niyazov, Dmitriy M., Stevens, Cathy, Zackai, Elaine, Lebel, Robert Roger, Ashley, Douglas, Kramer, Nancy, Lachman, Ralph S., Graham, John M.

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Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings Bằng Todd, Joshua J., Razaqyar, Muslima S., Witherspoon, Jessica W., Lawal, Tokunbor A., Mankodi, Ami, Chrismer, Irene C., Allen, Carolyn, Meyer, Mary D., Kuo, Anna, Shelton, Monique S., Amburgey, Kim, Niyazov, Dmitriy, Fequiere, Pierre, Bönnemann, Carsten G., Dowling, James J., Meilleur, Katherine G.

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Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities Bằng Bend, Renee, Cohen, Lior, Carter, Melissa T., Lyons, Michael J., Niyazov, Dmitriy, Mikati, Mohamad A., Rojas, Samantha K., Person, Richard E., Si, Yue, Wentzensen, Ingrid M., Torti, Erin, Lee, Jennifer A., Boycott, Kym M., Basel-Salmon, Lina, Ferreira, Carlos R., Gonzaga-Jauregui, Claudia

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Novel NUDT2 variant causes intellectual disability and polyneuropathy Bằng Diaz, Frank, Khosa, Shaweta, Niyazov, Dmitriy, Lee, Hane, Person, Richard, Morrow, Michelle M., Signer, Rebecca, Dorrani, Naghmeh, Zheng, Allison, Herzog, Matthew, Freundlich, Robert, Birath, J. Brandon, Cervantes‐Manzo, Yurivia, Martinez‐Agosto, Julian A., Palmer, Christina, Nelson, Stanley F., Fogel, Brent L., Mishra, Shri K.

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Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability Bằng Pilarowski, Genay O., Vernon, Hilary J., Applegate, Carolyn D., Boukas, Leandros, Cho, Megan T., Gurnett, Christina A., Benke, Paul J., Beaver, Erin, Heeley, Jennifer M., Medne, Livija, Krantz, Ian D., Azage, Meron, Niyazov, Dmitriy, Henderson, Lindsay B., Wentzensen, Ingrid M., Baskin, Berivan, Guillen Sacoto, Maria J., Bowman, Gregory D., Bjornsson, Hans Tomas

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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe dise... Bằng Kazi, Zoheb B., Desai, Ankit K., Troxler, R. Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Rizzo, William B., Scherer, Katalin, Abdul-Rahman, Omar, Tanpaiboon, Pranoot, Nampoothiri, Sheela, Gupta, Neerja, Feigenbaum, Annette, Niyazov, Dmitriy M., Langston, Sherry, Segel, Reeval, McVie-Wylie, Alison, Sung, Crystal, Joseph, Alexandra M., Richards, Susan, Kishnani, Priya S.

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

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A Copy Number Variation Morbidity Map of Developmental Delay Bằng Cooper, Gregory M., Coe, Bradley P., Girirajan, Santhosh, Rosenfeld, Jill A., Vu, Tiffany, Baker, Carl, Williams, Charles, Stalker, Heather, Hamid, Rizwan, Hannig, Vickie, Abdel-Hamid, Hoda, Bader, Patricia, McCracken, Elizabeth, Niyazov, Dmitriy, Leppig, Kathleen, Thiese, Heidi, Hummel, Marybeth, Alexander, Nora, Gorski, Jerome, Kussmann, Jennifer, Shashi, Vandana, Johnson, Krys, Rehder, Catherine, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.

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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies Bằng Niceta, Marcello, Stellacci, Emilia, Gripp, Karen W., Zampino, Giuseppe, Kousi, Maria, Anselmi, Massimiliano, Traversa, Alice, Ciolfi, Andrea, Stabley, Deborah, Bruselles, Alessandro, Caputo, Viviana, Cecchetti, Serena, Prudente, Sabrina, Fiorenza, Maria T., Boitani, Carla, Philip, Nicole, Niyazov, Dmitriy, Leoni, Chiara, Nakane, Takaya, Keppler-Noreuil, Kim, Braddock, Stephen R., Gillessen-Kaesbach, Gabriele, Palleschi, Antonio, Campeau, Philippe M., Lee, Brendan H.L., Pouponnot, Celio, Stella, Lorenzo, Bocchinfuso, Gianfranco, Katsanis, Nicholas, Sol-Church, Katia, Tartaglia, Marco

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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Bằng Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.

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Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Bằng Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.

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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation Bằng Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.

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Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants Bằng Gauquelin, Laurence, Cayami, Ferdy K., Sztriha, László, Yoon, Grace, Tran, Luan T., Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M.L., Fung, Eva L., D'Arrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M., Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C., Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S., Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I., Bernard, Geneviève

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants Bằng Girirajan, Santhosh, Rosenfeld, Jill A., Coe, Bradley P., Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A., McConnell, Juliann S., Angle, Brad, Meschino, Wendy S., Nezarati, Marjan M., Asamoah, Alexander, Jackson, Kelly E., Gowans, Gordon C., Martin, Judith A., Carmany, Erin P., Stockton, David W., Schnur, Rhonda E., Penney, Lynette S., Martin, Donna M., Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M., Escobar, Luis F., El-Khechen, Dima, Johnson, Kisha D., Lebel, Robert R., Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K., Spence, J. Edward, Martin, Laura S., Clericuzio, Carol, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.

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