Search Results - "Wickert, Julia"

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy by Syrbe, Steffen, Harms, Frederike L, Parrini, Elena, Montomoli, Martino, Mütze, Ulrike, Helbig, Katherine L, Polster, Tilman, Albrecht, Beate, Bernbeck, Ulrich, van Binsbergen, Ellen, Biskup, Saskia, Burglen, Lydie, Denecke, Jonas, Heron, Bénédicte, Heyne, Henrike O, Hoffmann, Georg F, Hornemann, Frauke, Matsushige, Takeshi, Matsuura, Ryuki, Kato, Mitsuhiro, Korenke, G Christoph, Kuechler, Alma, Lämmer, Constanze, Merkenschlager, Andreas, Mignot, Cyril, Ruf, Susanne, Nakashima, Mitsuko, Saitsu, Hirotomo, Stamberger, Hannah, Pisano, Tiziana, Tohyama, Jun, Weckhuysen, Sarah, Werckx, Wendy, Wickert, Julia, Mari, Francesco, Verbeek, Nienke E, Møller, Rikke S, Koeleman, Bobby, Matsumoto, Naomichi, Dobyns, William B, Battaglia, Domenica, Lemke, Johannes R, Kutsche, Kerstin, Guerrini, Renzo

“…De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with…”
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Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases by Méneret, Aurélie, Depienne, Christel, Riant, Florence, Trouillard, Oriane, Bouteiller, Delphine, Cincotta, Massimo, Bitoun, Pierre, Wickert, Julia, Lagroua, Isabelle, Westenberger, Ana, Borgheresi, Alessandra, Doummar, Diane, Romano, Marcello, Rossi, Simone, Defebvre, Luc, De Meirleir, Linda, Espay, Alberto J, Fiori, Simona, Klebe, Stephan, Quélin, Chloé, Rudnik-Schöneborn, Sabine, Plessis, Ghislaine, Dale, Russell C, Sklower Brooks, Susan, Dziezyc, Karolina, Pollak, Pierre, Golmard, Jean-Louis, Vidailhet, Marie, Brice, Alexis, Roze, Emmanuel

“…OBJECTIVE:We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51…”
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Factors influencing disaster risk and resilience education in Asian HEIs by Gotangco, Charlotte Kendra, Jardeleza, Jean Meir, Lopez, Crisanto, Labaria, Elirozz Carlie, Wickert, Julia, Shadiya, Fathmath

“…Purpose Educational initiatives can provide the crucial foundation for capacity-building of stakeholders in the field of disaster risk management and disaster…”
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Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients by Girisha, Katta Mohan, Bidchol, Abdul Mueed, Graul-Neumann, Luitgard, Gupta, Ashish, Hehr, Ute, Lessel, Davor, Nader, Sean, Shah, Hitesh, Wickert, Julia, Kutsche, Kerstin

“…Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofacial dysmorphism. It is caused by missense or…”
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Congenital mirror movements: Mutational analysis of by Méneret, Aurélie, Depienne, Christel, Riant, Florence, Trouillard, Oriane, Bouteiller, Delphine, Cincotta, Massimo, Bitoun, Pierre, Wickert, Julia, Lagroua, Isabelle, Westenberger, Ana, Borgheresi, Alessandra, Doummar, Diane, Romano, Marcello, Rossi, Simone, Defebvre, Luc, De Meirleir, Linda, Espay, Alberto J., Fiori, Simona, Klebe, Stephan, Quélin, Chloé, Rudnik-Schöneborn, Sabine, Plessis, Ghislaine, Dale, Russell C., Sklower Brooks, Susan, Dziezyc, Karolina, Pollak, Pierre, Golmard, Jean-Louis, Vidailhet, Marie, Brice, Alexis, Roze, Emmanuel

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A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect by Shoukier, Moneef, Wickert, Julia, Schröder, Julia, Bartels, Iris, Auber, Bernd, Zoll, Barbara, Salinas‐Riester, Gabriela, Weise, Dagmar, Brockmann, Knut, Zirn, Birgit, Burfeind, Peter

“…Interstitial deletions of the proximal chromosome 16q are rare. To date, only six cases with molecularly well‐characterized microdeletions within this…”
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Evaluating and enhancing Indiana 4-H member participation in natural resource education by Wickert, Julia Kathleen

“…The purpose of this research study is to discover means to increase participation and interest of youth in Indiana 4-H natural resource projects and programs…”
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A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect by Shoukier, Moneef, Wickert, Julia, Schröder, Julia, Bartels, Iris, Auber, Bernd, Zoll, Barbara, Salinas-Riester, Gabriela, Weise, Dagmar, Brockmann, Knut, Zirn, Birgit, Burfeind, Peter

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