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9 results for Niyazov,+Dmitriy+M

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ArticlesFull Text
Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder
Author / Creator:Rose, Shannon ; Niyazov, Dmitriy M. ; Rossignol, Daniel A. ; Goldenthal, Michael ; Kahler, Stephen G. ; Frye, Richard E.
Publisher:Cham: Springer International Publishing
Journal title:Molecular diagnosis & therapy, 2018-10, Vol.22 (5), p.571-593
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ArticlesPeer ReviewedFull Text
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Author / Creator: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
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2012-10, Vol.367 (14), p.1321-1331
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ArticlesPeer ReviewedFull Text
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 disease
Author / Creator: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. ; Sherry, Langston ; Segel, Reeval ; McVie-Wylie, Alison ; Sung, Crystal ; Joseph, Alexandra M. ; Richards, Susan ; Kishnani, Priya S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-04, Vol.21 (4), p.887-895
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ArticlesPeer ReviewedFull Text
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
Author / Creator:Ballif, Blake C. ; Rosenfeld, Jill A. ; Traylor, Ryan ; Theisen, Aaron ; Bader, Patricia I. ; Ladda, Roger L. ; Sell, Susan L. ; Steinraths, Michelle ; Surti, Urvashi ; McGuire, Marianne ; Williams, Shelley ; Farrell, Sandra A. ; Filiano, James ; Schnur, Rhonda E. ; Coffey, Lauren B. ; Tervo, Raymond C. ; Stroud, Tracy ; Marble, Michael ; Netzloff, Michael ; Hanson, Kristen ; Aylsworth, Arthur S. ; Bamforth, J. S. ; Babu, Deepti ; Niyazov, Dmitriy M. ; Ravnan, J. Britt ; Schultz, Roger A. ; Lamb, Allen N. ; Torchia, Beth S. ; Bejjani, Bassem A. ; Shaffer, Lisa G.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2012-01, Vol.131 (1), p.145-156
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ArticlesPeer ReviewedFull Text
Assessing Low‐frequency Repetitive Transcranial Magnetic Stimulation with Functional Magnetic Resonance Imaging: A Case Series
Author / Creator:Glielmi, Christopher B. ; Butler, Andrew J. ; Niyazov, Dmitriy M. ; Darling, Warren G. ; Epstein, Charles M. ; Alberts, Jay L. ; Hu, Xiaoping P.
Publisher:United States
Journal title:Physiotherapy research international : the journal for researchers and clinicians in physical therapy, 2014-06, Vol.19 (2), p.117-125
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ArticlesPeer ReviewedFull Text
Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type
Author / Creator:Hayes, Laura L. ; Simoneaux, Stephen F. ; Palasis, Susan ; Niyazov, Dmitriy M.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Pediatric radiology, 2008-09, Vol.38 (9), p.994-998
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ArticlesPeer ReviewedFull Text
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
Author / Creator:Lahrouchi, Najim ; Postma, Alex V. ; Salazar, Christian M. ; De Laughter, Daniel M. ; Tjong, Fleur ; Piherová, Lenka ; Bowling, Forrest Z. ; Zimmerman, Dominic ; Lodder, Elisabeth M. ; Ta-Shma, Asaf ; Perles, Zeev ; Beekman, Leander ; Ilgun, Aho ; Gunst, Quinn ; Hababa, Mariam ; Škorić-Milosavljević, Doris ; Stránecký, Viktor ; Tomek, Viktor ; de Knijff, Peter ; de Leeuw, Rick ; Robinson, Jamille Y. ; Burn, Sabrina C. ; Mustafa, Hiba ; Ambrose, Matthew ; Moss, Timothy ; Jacober, Jennifer ; Niyazov, Dmitriy M. ; Wolf, Barry ; Kim, Katherine H. ; Cherny, Sara ; Rousounides, Andreas ; Aristidou-Kallika, Aphrodite ; Tanteles, George ; Ange-Line, Bruel ; Denommé-Pichon, Anne-Sophie ; Francannet, Christine ; Ortiz, Damara ; Haak, Monique C. ; Harkel, Arend D. J. Ten ; Manten, Gwendolyn T.R. ; Dutman, Annemiek C. ; Bouman, Katelijne ; Magliozzi, Monia ; Radio, Francesca Clementina ; Santen, Gijs W.E. ; Herkert, Johanna C. ; Brown, H. Alex ; Elpeleg, Orly ; van den Hoff, Maurice J.B. ; Mulder, Barbara ; Airola, Michael V. ; Kmoch, Stanislav ; Barnett, Joey V. ; Clur, Sally-Ann ; Frohman, Michael A. ; Bezzina, Connie R.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2021-03, Vol.131 (5), p.1-12
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ArticlesPeer ReviewedFull Text
Acknowledgement to Reviewers of Metabolites in 2019
Author / Creator:Metabolites Editorial Office
Publisher:Basel: MDPI AG
Journal title:Metabolites, 2020-01, Vol.10 (1), p.41
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ReportsFull Text
Assessing Low-frequency Repetitive Transcranial Magnetic Stimulation with Functional Magnetic Resonance Imaging: A Case Series
Author / Creator:Glielmi, Christopher B. ; Butler, Andrew J. ; Niyazov, Dmitriy M. ; Darling, Warren G. ; Epstein, Charles M. ; Alberts, Jay L. ; Hu, Xiaoping P.
Publisher:Blackwell Publishing Ltd
Journal title:Physiotherapy Research International, 2014, Vol.19 (2), p.117-125
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Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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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 disease

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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

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Assessing Low‐frequency Repetitive Transcranial Magnetic Stimulation with Functional Magnetic Resonance Imaging: A Case Series

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Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type

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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

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Acknowledgement to Reviewers of Metabolites in 2019

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Assessing Low-frequency Repetitive Transcranial Magnetic Stimulation with Functional Magnetic Resonance Imaging: A Case Series

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