Arama Sonuçları - Wierenga, Klaas

Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures() Yazar: Pascual, Franchette T., Wierenga, Klaas J., Ng, Yu-Tze

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High-Throughput Screening for Human Galactokinase Inhibitors Yazar: WIERENGA, KLAAS J., LAI, KENT, BUCHWALD, PETER, TANG, MANSHU

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The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2 Yazar: Shakir, Aamina, Wadley, Alexandrea F., Purcarin, Gabriela, Wierenga, Klaas J.

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Comment on: Loureiro & Rozenfeld "Epidemiology of sickle cell disease hospital admissions in Brazil" Yazar: Wierenga, Klaas J. J., Hambleton, Ian R., Loureiro, Monique M., Rozenfeld, Suely

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Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants Yazar: Muthusamy, Karthik, Ferrer, Alejandro, Klee, Eric W., Wierenga, Klaas J., Gavrilova, Ralitza H.

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A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents Yazar: Wierenga, Klaas J., Jiang, Zhijie, Yang, Amy C., Mulvihill, John J., Tsinoremas, Nicholas F.

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Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations Yazar: Richter, John E., Samreen, Ayesha, Vadlamudi, Charitha, Helmi, Haytham, Mohammad, Ahmed N., Wierenga, Klaas, Hines, Stephanie, Atwal, Paldeep S., Caulfield, Thomas R.

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Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome Yazar: Macke, Erica L., Morales‐Rosado, Joel A., Macklin‐Mantia, Sarah K., Schmitz, Christopher T., Oskarsson, Björn, Klee, Eric W., Wierenga, Klaas J.

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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis Yazar: Nesin, Vasyl, Wiley, Graham, Kousi, Maria, Ong, E-Ching, Lehmann, Thomas, Nicholl, David J., Suri, Mohnish, Shahrizaila, Nortina, Katsanis, Nicholas, Gaffney, Patrick M., Wierenga, Klaas J., Tsiokas, Leonidas

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A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes Yazar: Kurt, Bulent, Jaeken, Jaak, Van Hove, Johan, Lagae, Lieven, Löfgren, Ann, Everman, David B., Jayakar, Parul, Naini, Ali, Wierenga, Klaas J., Van Goethem, Gert, Copeland, William C., DiMauro, Salvatore

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Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder Yazar: Schultz‐Rogers, Laura, Masuho, Ikuo, Pinto e Vairo, Filippo, Schmitz, Christopher T., Schwab, Tanya L., Clark, Karl J., Gunderson, Lauren, Pichurin, Pavel N., Wierenga, Klaas, Martemyanov, Kirill A., Klee, Eric W.

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THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA: Identification of novel compound heterozygotes and mutation update Yazar: Neuwirth, Anke K., Sahai, Inderneel, Falcone, Jill F., Fleming, Judy, Bagg, Adam, Borgna-Pignatti, Caterina, Casey, Robin, Fabris, Luca, Hexner, Elizabeth, Mathews, Lulu, Ribeiro, Maria Leticia, Wierenga, Klaas J., Neufeld, Ellis J.

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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans Yazar: Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu

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βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy Yazar: Wang, Chih-Chuan, Ortiz-González, Xilma R., Yum, Sabrina W., Gill, Sara M., White, Amy, Kelter, Erin, Seaver, Laurie H., Lee, Sansan, Wiley, Graham, Gaffney, Patrick M., Wierenga, Klaas J., Rasband, Matthew N.

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Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals Yazar: Wojcik, Monica H., Wierenga, Klaas J., Rodan, Lance H., Sahai, Inderneel, Ferdinandusse, Sacha, Genetti, Casie A., Towne, Meghan C., Peake, Roy W. A., James, Philip M., Beggs, Alan H., Brownstein, Catherine A., Berry, Gerard T., Agrawal, Pankaj B.

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Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature Yazar: Au, P. Y. Billie, Goedhart, Caitlin, Ferguson, Marcia, Breckpot, Jeroen, Devriendt, Koenraad, Wierenga, Klaas, Fanning, Elizabeth, Grange, Dorothy K., Graham, Gail E., Galarreta, Carolina, Jones, Marilyn C., Kini, Usha, Stewart, Helen, Parboosingh, Jillian S., Kline, Antonie D., Innes, A. Micheil

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A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy Yazar: Støve, Svein Isungset, Blenski, Marina, Stray-Pedersen, Asbjørg, Wierenga, Klaas J., Jhangiani, Shalini N., Akdemir, Zeynep Coban, Crawford, David, McTiernan, Nina, Myklebust, Line M., Purcarin, Gabriela, McNall-Knapp, Rene, Wadley, Alexandrea, Belmont, John W., Kim, Jeffrey J., Lupski, James R, Arnesen, Thomas

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Dominant collagen XII mutations cause a distal myopathy Yazar: Mohassel, Payam, Liewluck, Teerin, Hu, Ying, Ezzo, Daniel, Ogata, Tracy, Saade, Dimah, Neuhaus, Sarah, Bolduc, Véronique, Zou, Yaqun, Donkervoort, Sandra, Medne, Livija, Sumner, Charlotte J., Dyck, P. James B., Wierenga, Klaas J., Tennekoon, Gihan, Finkel, Richard S., Chen, Jiani, Winder, Thomas L., Staff, Nathan P., Foley, A. Reghan, Koch, Manuel, Bönnemann, Carsten G.

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Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect Yazar: Nizon, Mathilde, Laugel, Vincent, Flanigan, Kevin M., Pastore, Matthew, Waldrop, Megan A., Rosenfeld, Jill A., Marom, Ronit, Xiao, Rui, Gerard, Amanda, Pichon, Olivier, Caignec, Cédric Le, Gérard, Marion, Dieterich, Klaus, Cho, Megan Truitt, McWalter, Kirsty, Hiatt, Susan, Thompson, Michelle L., Bézieau, Stéphane, Wadley, Alexandrea, Wierenga, Klaas J., Egly, Jean-Marc, Isidor, Bertrand

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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially Yazar: Luo, Xi, Rosenfeld, Jill A., Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J., Pastore, Matthew T., Bartholomew, Dennis, Delgado, Mauricio R., Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A., Eldomery, Mohammad K., Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R., Lotze, Timothy, Lupski, James R., Lee, Brendan, Bellen, Hugo J., Wangler, Michael F.

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