Suchergebnisse - Koolen, David A.

Whole exome sequencing of suspected mitochondrial patients in clinical practice von Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.

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Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia von Morgan, Angela T., Haaften, Leenke van, van Hulst, Karen, Edley, Carol, Mei, Cristina, Tan, Tiong Yang, Amor, David, Fisher, Simon E., Koolen, David A.

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Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome von Dingemans, Alexander J. M., Stremmelaar, Diante E., van der Donk, Roos, Vissers, Lisenka E. L. M., Koolen, David A., Rump, Patrick, Hehir-Kwa, Jayne Y., de Vries, Bert B. A.

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Variability in dentofacial phenotypes in four families with WNT10A mutations von Vink, Christian P, Ockeloen, Charlotte W, ten Kate, Sietske, Koolen, David A, Ploos van Amstel, Johannes Kristian, Kuijpers-Jagtman, Anne-Marie, van Heumen, Celeste C, Kleefstra, Tjitske, Carels, Carine E L

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Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism von Koolen, David A, Dupont, Juliette, de Leeuw, Nicole, Vissers, Lisenka ELM, van den Heuvel, Simone PA, Bradbury, Alyson, Steer, James, de Brouwer, Arjan PM, ten Kate, Leo P, Nillesen, Willy M, de Vries, Bert BA, Parker, Michael J

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Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing von Itsara, Andy, Vissers, Lisenka E.L.M., Steinberg, Karyn Meltz, Meyer, Kevin J., Zody, Michael C., Koolen, David A., de Ligt, Joep, Cuppen, Edwin, Baker, Carl, Lee, Choli, Graves, Tina A., Wilson, Richard K., Jenkins, Robert B., Veltman, Joris A., Eichler, Evan E.

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Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders von van der Donk, Roos, Jansen, Sandra, Schuurs-Hoeijmakers, Janneke H. M., Koolen, David A., Goltstein, Lia C. M. J., Hoischen, Alexander, Brunner, Han G., Kemmeren, Patrick, Nellåker, Christoffer, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Hehir-Kwa, Jayne Y.

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Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders von Linda, Katrin, Lewerissa, Elly I., Verboven, Anouk H. A., Gabriele, Michele, Frega, Monica, Klein Gunnewiek, Teun M., Devilee, Lynn, Ulferts, Edda, Hommersom, Marina, Oudakker, Astrid, Schoenmaker, Chantal, van Bokhoven, Hans, Schubert, Dirk, Testa, Giuseppe, Koolen, David A., de Vries, Bert B.A., Nadif Kasri, Nael

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Neonatal Non-Epileptic Myoclonus is a Prominent Clinical Feature of KCNQ2 Gain-of-Function Variants R201C and R201H von Mulkey, Sarah B., Ben-Zeev, Bruria, Nicolai, Joost, Carroll, John L., Grønborg, Sabine, Jiang, Yong-hui, Joshi, Nishtha, Kelly, Megan, Koolen, David. A., Mikati, Mohamad A., Park, Kristen, Pearl, Phillip L., Scheffer, Ingrid E., Spillmann, Rebecca C., Taglialatela, Maurizio, Vieker, Silvia, Weckhuysen, Sarah, Cooper, Edward C., Cilio, Maria Roberta

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Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information von Dingemans, Alexander J. M., Stremmelaar, Diante E., Vissers, Lisenka E. L. M., Jansen, Sandra, Nabais Sá, Maria J., van Remortele, Angela, Jonis, Noraly, Truijen, Kim, van de Ven, Sam, Ewals, Jeroen, Verbruggen, Michel, Koolen, David A., Brunner, Han G., Eichler, Evan E., Gecz, Jozef, de Vries, Bert B. A.

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Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition von Arbogast, Thomas, Iacono, Giovanni, Chevalier, Claire, Afinowi, Nurudeen O., Houbaert, Xander, van Eede, Matthijs C., Laliberte, Christine, Birling, Marie-Christine, Linda, Katrin, Meziane, Hamid, Selloum, Mohammed, Sorg, Tania, Nadif Kasri, Nael, Koolen, David A., Stunnenberg, Henk G., Henkelman, R. Mark, Kopanitsa, Maksym, Humeau, Yann, De Vries, Bert B. A., Herault, Yann

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Aminoacyl-tRNA synthetase deficiencies in search of common themes von Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.

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De novo variants in MPP5 cause global developmental delay and behavioral changes von Sterling, Noelle, Duncan, Anna R, Park, Raehee, Koolen, David A, Shi, Jiahai, Cho, Seo-Hee, Benke, Paul J, Grant, Patricia E, Genetti, Casie A, VanNoy, Grace E, Juusola, Jane, McWalter, Kirsty, Parboosingh, Jillian S, Lamont, Ryan E, Bernier, Francois P, Smith, Christopher, Harris, David J, Stegmann, Alexander P A, Innes, A Micheil, Kim, Seonhee, Agrawal, Pankaj B

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Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes von Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.

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Diagnostic Genome Profiling in Mental Retardation von de Vries, Bert B. A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E. L. M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H. L. P. G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M. A., van Kessel, Ad Geurts, Schoenmakers, Eric F. P. M., Brunner, Han G., Veltman, Joris A.

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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome von Verberne, Eline A., van der Laan, Liselot, Haghshenas, Sadegheh, Rooney, Kathleen, Levy, Michael A., Alders, Mariëlle, Maas, Saskia M., Jansen, Sandra, Lieden, Agne, Anderlid, Britt-Marie, Rafael-Croes, Louise, Campeau, Philippe M., Chaudhry, Ayeshah, Koolen, David A., Pfundt, Rolph, Hurst, Anna C. E., Tran-Mau-Them, Frederic, Bruel, Ange-Line, Lambert, Laetitia, Isidor, Bertrand, Mannens, Marcel M. A. M., Sadikovic, Bekim, Henneman, Peter, van Haelst, Mieke M.

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Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior von de Brouwer, Arjan P.M., Abou Jamra, Rami, Körtel, Nadine, Soyris, Clara, Polla, Daniel L., Safra, Modi, Zisso, Avia, Powell, Christopher A., Rebelo-Guiomar, Pedro, Dinges, Nadja, Morin, Violeta, Stock, Michael, Hussain, Mureed, Shahzad, Mohsin, Riazuddin, Saima, Ahmed, Zubair M., Pfundt, Rolph, Schwarz, Franziska, de Boer, Lonneke, Reis, André, Grozeva, Detilina, Raymond, F. Lucy, Riazuddin, Sheikh, Koolen, David A., Minczuk, Michal, Roignant, Jean-Yves, van Bokhoven, Hans, Schwartz, Schraga

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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis von Shintaku, Jonathan, Pernice, Wolfgang M., Eyaid, Wafaa, GC, Jeevan B., Brown, Zuben P., Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W., Hellebrekers, Debby M.E.I., Blakely, Emma L., Donaldson, Alan, van de Laar, Ingrid, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A., Rodenburg, Richard J., Chinnery, Patrick F., Smeets, H.J.M., Gorman, Gráinne S., Bonnen, Penelope E., Taylor, Robert W., Hirano, Michio

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Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy von Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco

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Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy von McMillan, Hugh J., Telegrafi, Aida, Singleton, Amanda, Cho, Megan T., Lelli, Daniel, Lynn, Francis C., Griffin, Julie, Asamoah, Alexander, Rinne, Tuula, Erasmus, Corrie E., Koolen, David A., Haaxma, Charlotte A., Keren, Boris, Doummar, Diane, Mignot, Cyril, Thompson, Islay, Velsher, Lea, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Tchan, Michel, Simons, Cas, Christodoulou, John, Martín-Hernández, Elena, Guillen Sacoto, Maria J., Henderson, Lindsay B., McLaughlin, Heather, Molday, Laurie L., Molday, Robert S., Yoon, Grace

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