Reductions in interhemispheric motor cortex functional connectivity after muscle fatigue
Peltier, Scott J., LaConte, Stephen M., Niyazov, Dmitriy M., Liu, Jing Z., Sahgal, Vinod, Yue, Guang H., Hu, Xiaoping P.
Published in Brain research (28.09.2005)
Published in Brain research (28.09.2005)
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Journal Article
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
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
Published in The New England journal of medicine (04.10.2012)
Published in The New England journal of medicine (04.10.2012)
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Journal Article
Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum
Coulie, Richard, Niyazov, Dmitriy M., Gambello, Michael J., Fastré, Elodie, Brouillard, Pascal, Vikkula, Miikka
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Journal Article
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
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
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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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
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.
Published in Human genetics (2012)
Published in Human genetics (2012)
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Journal Article
Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation
Bettinelli, Audra L., Mulder, Theodorus J., Funke, Birgit H., Lafferty, Katherine A., Longo, Sherri A., Niyazov, Dmitriy M.
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Journal Article
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
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
Published in Neurology. Genetics (01.12.2019)
Published in Neurology. Genetics (01.12.2019)
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Journal Article
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25
Burkardt, Deepika D'Cunha, Rosenfeld, Jill A., Helgeson, Maria L., Angle, Brad, Banks, Valerie, Smith, Wendy E., Gripp, Karen W., Moline, Jessica, Moran, Rocio T., Niyazov, Dmitriy M., Stevens, Cathy A., Zackai, Elaine, Lebel, Robert Roger, Ashley, Douglas G., Kramer, Nancy, Lachman, Ralph S., Graham Jr, John M.
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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Journal Article
Assessing Low‐frequency Repetitive Transcranial Magnetic Stimulation with Functional Magnetic Resonance Imaging: A Case Series
Glielmi, Christopher B., Butler, Andrew J., Niyazov, Dmitriy M., Darling, Warren G., Epstein, Charles M., Alberts, Jay L., Hu, Xiaoping P.
Published in Physiotherapy research international : the journal for researchers and clinicians in physical therapy (01.06.2014)
Published in Physiotherapy research international : the journal for researchers and clinicians in physical therapy (01.06.2014)
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Journal Article
Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure
Homan, David J, Niyazov, Dmitriy M, Fisher, Patrick W, Mandras, Stacy, Patel, Hamang, Bates, Michael, Parrino, Gene, Ventura, Hector O
Published in Congestive heart failure (Greenwich, Conn.) (01.03.2011)
Published in Congestive heart failure (Greenwich, Conn.) (01.03.2011)
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Diagnosis of endolymphatic hydrops in vivo with magnetic resonance imaging
Niyazov, D M, Andrews, J C, Strelioff, D, Sinha, S, Lufkin, R
Published in Otology & neurotology (01.11.2001)
Published in Otology & neurotology (01.11.2001)
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A newborn with congenital complete atrioventricular block, lissencephaly, and skeletal abnormalities: a case of suspected cytomegalovirus infection
Mulder, Theodorus J, Niyazov, Dmitriy M, Kattash, Mudar M, Longo, Sherri A, Robichaux Iii, Alfred G, Snyder, Christopher S
Published in Congenital heart disease (01.09.2010)
Published in Congenital heart disease (01.09.2010)
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Journal Article
An unusual cardiac defect in a patient with clinical features overlapping between cardiofaciocutaneous and Noonan syndromes
DeSena, Holly C, Niyazov, Dmitriy M, Parrino, P Eugene, Lucas, Victor W, Shah, Sangeeta B, Moodie, Douglas S
Published in Congenital heart disease (01.01.2010)
Published in Congenital heart disease (01.01.2010)
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Journal Article
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
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, Ten Harkel, Arend D.J., Manten, Gwendolyn Tr, Dutman, Annemiek C, Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs We, Herkert, Johanna C, Brown, H Alex, Elpeleg, Orly, van den Hoff, Maurice Jb, Mulder, Barbara, Airola, Michael V, Kmoch, Stanislav, Barnett, Joey V, Clur, Sally-Ann, Frohman, Michael A, Bezzina, Connie R
Published in The Journal of clinical investigation (01.03.2021)
Published in The Journal of clinical investigation (01.03.2021)
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Journal Article
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P., Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K., Wigby, Kristen M., Baralle, Diana, Mehrjardi, Mohammad Y.V., Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M., Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T., Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E., Ercan-Sencicek, A. Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C., Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N., Kraus, Alison, Valenzuela, Irene, McLean, Scott D., Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E., Torti, Erin, Haack, Tobias B., Prada, Carlos E., Alkuraya, Fowzan S., Houlden, Henry, Maroofian, Reza
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
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