検索結果 - Kleefstra, Tjitske

Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2 著者: Verhoeven, Willem MA, Egger, Jos IM, Knegt, Alida C, Zuydam, José, Kleefstra, Tjitske

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Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? 著者: Verhoeven, Willem MA, Egger, Jos IM, Willemsen, Marjolein H, de Leijer, Gert JM, Kleefstra, Tjitske

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SETD1A Mediated H3K4 Methylation and Its Role in Neurodevelopmental and Neuropsychiatric Disorders 著者: Wang, Shan, Bleeck, Anna, Nadif Kasri, Nael, Kleefstra, Tjitske, van Rhijn, Jon-Ruben, Schubert, Dirk

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A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia? 著者: Verhoeven, Willem, Egger, Jos, Kipp, Janneke, Verheul‐ aan de Wiel, Jiska, Ockeloen, Charlotte, Kleefstra, Tjitske, Pfundt, Rolph

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A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis 著者: AGHA, ZEHRA, IQBAL, ZAFAR, KLEEFSTRA, TJITSKE, ZWEIER, CHRISTIANE, PFUNDT, ROLPH, QAMAR, RAHEEL, VAN BOKHOVEN, HANS, WILLEMSEN, MARJOLEIN H.

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Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies 著者: Bouman, Arianne, Geelen, Joyce M., Kummeling, Joost, Schenck, Annette, van der Zwan, Yvonne G., Klein, Willemijn M., Kleefstra, Tjitske

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Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcript... 著者: Shoubridge, Cheryl, Tan, May Huey, Fullston, Tod, Cloosterman, Desiree, Coman, David, McGillivray, George, Mancini, Grazia M, Kleefstra, Tjitske, Gécz, Jozef

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Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms 著者: Isrie, Mala, Hendriks, Yvonne, Gielissen, Nicole, Sistermans, Erik A, Willemsen, Marjolein H, Peeters, Hilde, Vermeesch, Joris R, Kleefstra, Tjitske, Van Esch, Hilde

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Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study 著者: van Dongen, Linde C. M., Wingbermühle, Ellen, Oomens, Wouter, Bos-Roubos, Anja G., Ockeloen, Charlotte W., Kleefstra, Tjitske, Egger, Jos I. M.

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Speech‐language profiles in the context of cognitive and adaptive functioning in SATB2‐associated syndrome 著者: Snijders Blok, Lot, Goosen, Y. Max, van Haaften, Leenke, van Hulst, Karen, Fisher, Simon E., Brunner, Han G., Egger, Jos I. M., Kleefstra, Tjitske

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Behavior and cognitive functioning in Witteveen–Kolk syndrome 著者: van Dongen, Linde C. M., Wingbermühle, Ellen, Dingemans, Alexander J. M., Bos‐Roubos, Anja G., Vermeulen, Karlijn, Pop‐Purceleanu, Monica, Kleefstra, Tjitske, Egger, Jos I. M.

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Exploring the behavioral and cognitive phenotype of KBG syndrome 著者: van Dongen, Linde C.M., Wingbermühle, Ellen, van der Veld, William M., Vermeulen, Karlijn, Bos‐Roubos, Anja G., Ockeloen, Charlotte W., Kleefstra, Tjitske, Egger, Jos I.M.

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Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders 著者: Geertjens, Lisa, van Voorst, Torben W., Bouman, Arianne, van Boven, Maaike A., Kleefstra, Tjitske, Verhage, Matthijs, Linkenkaer-Hansen, Klaus, Nadif Kasri, Nael, Cornelisse, L. Niels, Bruining, Hilgo

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The histone methyltransferase G9a regulates tolerance to oxidative stress–induced energy consumption 著者: Riahi, Human, Brekelmans, Carlijn, Foriel, Sarah, Merkling, Sarah H., Lyons, Taylor A., Itskov, Pavel M., Kleefstra, Tjitske, Ribeiro, Carlos, van Rij, Ronald P., Kramer, Jamie M., Schenck, Annette

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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies 著者: Knaus, Alexej, Kortüm, Fanny, Kleefstra, Tjitske, Stray-Pedersen, Asbjørg, Đukić, Dejan, Murakami, Yoshiko, Gerstner, Thorsten, van Bokhoven, Hans, Iqbal, Zafar, Horn, Denise, Kinoshita, Taroh, Hempel, Maja, Krawitz, Peter M.

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Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database 著者: Betsalel, Ofir T, Rosenberg, Efraim H, Almeida, Ligia S, Kleefstra, Tjitske, Schwartz, Charles E, Valayannopoulos, Vassili, Abdul-Rahman, Omar, Poplawski, Nicola, Vilarinho, Laura, Wolf, Philipp, den Dunnen, Johan T, Jakobs, Cornelis, Salomons, Gajja S

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EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction 著者: de Boer, Anneke, Vermeulen, Karlijn, Egger, Jos I. M., Janzing, Joost G. E., de Leeuw, Nicole, Veenstra-Knol, Hermine E., den Hollander, Nicolette S., van Bokhoven, Hans, Staal, Wouter, Kleefstra, Tjitske

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High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation 著者: Rosenberg, Efraim H., Almeida, Ligia S., Kleefstra, Tjitske, deGrauw, Rose S., Yntema, Helger G., Bahi, Nadia, Moraine, Claude, Ropers, Hans-Hilger, Fryns, Jean-Pierre, deGrauw, Ton J., Jakobs, Cornelis, Salomons, Gajja S.

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Variability in dentofacial phenotypes in four families with WNT10A mutations 著者: 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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Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12 著者: Goubau, Christophe, Devriendt, Koen, Van der Aa, Nathalie, Crepel, An, Wieczorek, Dagmar, Kleefstra, Tjitske, Willemsen, Marjolein H, Rauch, Anita, Tzschach, Andreas, de Ravel, Thomy, Leemans, Peter, Van Geet, Chris, Buyse, Gunnar, Freson, Kathleen

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