Parenting stress in families of children with disabilities: Impact of type of disability and assessment of attending paediatricians von Scheibner, Cora, Scheibner, Maxi, Hornemann, Frauke, Arélin, Maria, Hennig, Yvonne Doris, Kiep, Henriette, Wurst, Ulrike, Merkenschlager, Andreas, Gburek‐Augustat, Janina

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The Impact of Demographic Characteristics on Parenting Stress among Parents of Children with Disabilities: A Cross-Sectional Study von Scheibner, Maxi, Scheibner, Cora, Hornemann, Frauke, Arélin, Maria, Hennig, Yvonne Doris, Kiep, Henriette, Wurst, Ulrike, Merkenschlager, Andreas, Gburek-Augustat, Janina

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Newborn screening and disease variants predict neurological outcome in isovaleric aciduria von Mütze, Ulrike, Henze, Lucy, Gleich, Florian, Lindner, Martin, Grünert, Sarah C., Spiekerkoetter, Ute, Santer, René, Blessing, Holger, Thimm, Eva, Ensenauer, Regina, Weigel, Johannes, Beblo, Skadi, Arélin, Maria, Hennermann, Julia B., Marquardt, Thorsten, Marquardt, Iris, Freisinger, Peter, Krämer, Johannes, Dieckmann, Andrea, Weinhold, Natalie, Keller, Mareike, Walter, Magdalena, Schiergens, Katharina A., Maier, Esther M., Hoffmann, Georg F., Garbade, Sven F., Kölker, Stefan

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Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment von Mütze, Ulrike, Henze, Lucy, Schröter, Julian, Gleich, Florian, Lindner, Martin, Grünert, Sarah C, Spiekerkoetter, Ute, Santer, René, Thimm, Eva, Ensenauer, Regina, Weigel, Johannes, Beblo, Skadi, Arélin, Maria, Hennermann, Julia B, Marquardt, Iris, Freisinger, Peter, Krämer, Johannes, Dieckmann, Andrea, Weinhold, Natalie, Schiergens, Katharina A, Maier, Esther M, Hoffmann, Georg F, Garbade, Sven F, Kölker, Stefan

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KaRhab: an international online registry for cardiac rhabdomyomas von Herrmann, Vera-Maria, Arelin, Maria, Bergner, Caroline G, Herrmann, Julia, Janz, Paula, Kiep, Henriette, Mueller, Annika, Syrbe, Steffen, Wagner, Robert, Wannenmacher, Bardo, Wolf, Nadine, Weidenbach, Michael, Strehlow, Vincent

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Psychological well‐being of early and continuously treated phenylketonuria patients von Thiele, Alena Gerlinde, Spieß, Nicole, Ascherl, Rudolf, Arelin, Maria, Rohde, Carmen, Kiess, Wieland, Beblo, Skadi

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Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects von Arélin, Maria, Schulze, Bernt, Müller-Myhsok, Bertram, Horn, Denise, Diers, Alexander, Uhlenberg, Birgit, Nürnberg, Peter, Nürnberg, Gudrun, Becker, Christian, Mundlos, Stefan, Lindner, Tom H, Sperling, Karl, Hoffmann, Katrin

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The challenge of long-term tetrahydrobiopterin (BH4) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supply von Thiele, Alena G., Rohde, Carmen, Mütze, Ulrike, Arelin, Maria, Ceglarek, Uta, Thiery, Joachim, Baerwald, Christoph, Kiess, Wieland, Beblo, Skadi

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Lebenslange Disziplin für eine gute Prognose von Arélin, Maria, Thiele, Alena, Rohde, Carmen, Kirmse, Stefanie, Rieger, Kristin, Beblo, Skadi

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Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy von Brugger, Melanie, Lauri, Antonella, Zhen, Yan, Gramegna, Laura L., Zott, Benedikt, Sekulić, Nikolina, Fasano, Giulia, Kopajtich, Robert, Cordeddu, Viviana, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Paradisi, Graziamaria, Zanni, Ginevra, Vasco, Gessica, Carrozzo, Rosalba, Palombo, Flavia, Tonon, Caterina, Lodi, Raffaele, La Morgia, Chiara, Arelin, Maria, Blechschmidt, Cristiane, Finck, Tom, Sørensen, Vigdis, Kreiser, Kornelia, Strobl-Wildemann, Gertrud, Daum, Hagit, Michaelson-Cohen, Rachel, Ziccardi, Lucia, Zampino, Giuseppe, Prokisch, Holger, Abou Jamra, Rami, Fiorini, Claudio, Arzberger, Thomas, Winkelmann, Juliane, Caporali, Leonardo, Carelli, Valerio, Stenmark, Harald, Tartaglia, Marco, Wagner, Matias

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism von Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized,... von Driedger, Jan H, Schröter, Julian, Syrbe, Steffen, Saffari, Afshin

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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex , a two-arm, randomized, observer-blind, controlled phase IIb... von Driedger, Jan H, Schröter, Julian, Hertzberg, Christoph, Weschke, Bernhard, Kaindl, Angela M, Lücke, Thomas, Thiels, Charlotte, Klotz, Kerstin Alexandra, Fazeli, Walid, Rostásy, Kevin, Wiethoff-Ubrig, Lucia, Kaiser, Olaf, Trollmann, Regina, Mammadova, Dilbar, Schubert-Bast, Susanne, Bach, Alexia, Eckenweiler, Matthias, Schönberger, Jan, Martakis, Kyriakos, Hahn, Andreas, Brockmann, Knut, Dreha-Kulaczewski, Steffi, Weiss, Deike, Denecke, Jonas, Muhle, Hiltrud, Arelin, Maria, Merkenschlager, Andreas, Borggräfe, Ingo, Roser, Timo, Ebrahimi-Fakhari, Daniel, Fiedler, Barbara, Schlump, Jan-Ulrich, Köster, Ilka, Korenke, Christoph, Alber, Michael, Ruf, Susanne, Feucht, Martha, Scholl, Theresa

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Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies von Schröter, Julian, Popp, Bernt, Brennenstuhl, Heiko, Döring, Jan H, Donze, Stephany H, Bijlsma, Emilia K, van Haeringen, Arie, Huhle, Dagmar, Jestaedt, Leonie, Merkenschlager, Andreas, Arelin, Maria, Gräfe, Daniel, Neuser, Sonja, Oates, Stephanie, Pal, Deb K, Parker, Michael J, Lemke, Johannes R, Hoffmann, Georg F, Kölker, Stefan, Harting, Inga, Syrbe, Steffen

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Growth and Final Height Among Children With Phenylketonuria von Thiele, Alena G, Gausche, Ruth, Lindenberg, Cornelia, Beger, Christoph, Arelin, Maria, Rohde, Carmen, Mütze, Ulrike, Weigel, Johannes F, Mohnike, Klaus, Baerwald, Christoph, Scholz, Markus, Kiess, Wieland, Pfäffle, Roland, Beblo, Skadi

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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome von Cousin, Margot A, Veale, Emma L, Dsouza, Nikita R, Tripathi, Swarnendu, Holden, Robyn G, Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H, Graham, Jr, John M, Haack, Tobias B, Juusola, Jane, Kant, Sarina G, Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T, Kruisselbrink, Teresa M, Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S, Leonardi, Emanuela, Lewis, Andrea M, Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K, Guillen Sacoto, Maria J, Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T, Mathie, Alistair, Klee, Eric W

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Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism von Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta, Kaur, Anupriya, Kaur, Parmeet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia, Capuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra, Wilke, Martina, Thompson, Michelle, Bebin, Martina, Bijlsma, Emilia, Hoffer, Mariette, Peters-Scholte, Cacha, Slavotinek, Anne, Weiss, William, Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Yachelevich, Naomi, Wilaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Kloechner, Chiara, Kamphausen, Susanne, Jamra, Rami, Arelin, Maria, Innes, Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damien, de Burca, Anna, Kini, Usha, Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher

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eP148 - Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism von Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta, Kaur, Anupriya, Kaur, Parmeet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia, Capuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra, Wilke, Martina, Thompson, Michelle, Bebin, Martina, Bijlsma, Emilia, Hoffer, Mariette, Peters-Scholte, Cacha, Slavotinek, Anne, Weiss, William, Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Yachelevich, Naomi, Wilaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Kloechner, Chiara, Kamphausen, Susanne, Jamra, Rami, Arelin, Maria, Innes, Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damien, de Burca, Anna, Kini, Usha, Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher

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Additional file 1 of KaRhab: an international online registry for cardiac rhabdomyomas von Herrmann, Vera-Maria, Arelin, Maria, Bergner, Caroline G., Herrmann, Julia, Janz, Paula, Kiep, Henriette, Mueller, Annika, Syrbe, Steffen, Wagner, Robert, Wannenmacher, Bardo, Wolf, Nadine, Weidenbach, Michael, Strehlow, Vincent

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Additional file 2 of KaRhab: an international online registry for cardiac rhabdomyomas von Herrmann, Vera-Maria, Arelin, Maria, Bergner, Caroline G., Herrmann, Julia, Janz, Paula, Kiep, Henriette, Mueller, Annika, Syrbe, Steffen, Wagner, Robert, Wannenmacher, Bardo, Wolf, Nadine, Weidenbach, Michael, Strehlow, Vincent

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