Noninvasive Ventilation and Rapid Enteral Feeding Advances in Preterm Infants—2-Year Follow-Up of the STENA-Cohort

por Behnke, Judith, Estreich, Vanessa, Oehmke, Frank, Neubauer, Bernd Axel, Windhorst, Anita, Ehrhardt, Harald
Publicado 2023

Draft Genome Sequence of Lactobacillus delbrueckii Strain #22 Isolated from a Patient with Short Bowel Syndrome and Previous d-Lactic Acidosis and Encephalopathy

por Domann, Eugen, Fischer, Florence, Glowatzki, Fabian, Fritzenwanker, Moritz, Hain, Torsten, Zechel-Gran, Silke, Giffhorn-Katz, Susanne, Neubauer, Bernd A.
Publicado 2016

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood

por Myers, Kenneth A., McGlade, Amelia, Neubauer, Bernd A., Lal, Dennis, Berkovic, Samuel F., Scheffer, Ingrid E., Hildebrand, Michael S.
Publicado 2018

Duplications at 19q13.33 in patients with neurodevelopmental disorders

por Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis
Publicado 2018

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

por Lal, Dennis, Neubauer, Bernd A., Toliat, Mohammad R., Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Kamrath, Clemens, Schänzer, Anne, Sander, Thomas, Hahn, Andreas, Nothnagel, Michael
Publicado 2016

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

por Lal, Dennis, Reinthaler, Eva M., Altmüller, Janine, Toliat, Mohammad R., Thiele, Holger, Nürnberg, Peter, Lerche, Holger, Hahn, Andreas, Møller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz, Neubauer, Bernd A.
Publicado 2013

Correction: RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

por Lal, Dennis, Reinthaler, Eva M., Altmüller, Janine, Toliat, Mohammad R., Thiele, Holger, Nürnberg, Peter, Lerche, Holger, Hahn, Andreas, Møller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz, Neubauer, Bernd A.
Publicado 2013

Gastrointestinal Symptoms in Children With Life-Limiting Conditions Receiving Palliative Home Care

por Hauch, Holger, Kriwy, Peter, Hahn, Andreas, Dettmeyer, Reinhard, Zimmer, Klaus-Peter, Neubauer, Bernd, Brill, Sabine, Vaillant, Vera, de Laffolie, Jan, Schaefer, Kristine, Tretiakowa, Irina, Hach, Michaela, Sibelius, Ulf, Berthold, Daniel
Publicado 2021

Multidimensional assessment of infant, parent and staff outcomes during a family centered care enhancement project in a tertiary neonatal intensive care unit: study protocol of a l...

por Schuler, Rahel, Woitschitzky, Lea, Eiben, Carola, Beck, Judith, Jägers, Alena, Windhorst, Anita, Kampschulte, Birgit, Petzinger, Jutta, Waitz, Markus, Kilsdonk, Monique Oude Reimer-van, Neubauer, Bernd A., Zimmer, Klaus-Peter, Ehrhardt, Harald, Brosig, Burkhard, Mihatsch, Walter A.
Publicado 2023

Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome

por Strzelczyk, Adam, Kurlemann, Gerhard, Bast, Thomas, Bettendorf, Ulrich, Kluger, Gerhard, Mayer, Thomas, Neubauer, Bernd A., Polster, Tilman, von Spiczak, Sarah, Trollmann, Regina, Wolff, Markus, Toward, Toby, Gruenert, Jens, Gibson, Eddie, Pritchard, Clive, Carroll, Joe, Rosenow, Felix, Schubert-Bast, Susanne
Publicado 2022

Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany

por Maltseva, Margarita, Schubert-Bast, Susanne, Zöllner, Johann Philipp, Bast, Thomas, Mayer, Thomas, von Spiczak, Sarah, Ruf, Susanne, Trollmann, Regina, Wolff, Markus, Hornemann, Frauke, Klotz, Kerstin A., Jacobs, Julia, Kurlemann, Gerhard, Neubauer, Bernd A., Polster, Tilman, Syrbe, Steffen, Bertsche, Astrid, Bettendorf, Ulrich, Kluger, Gerhard, Flege, Silke, Rosenow, Felix, Kay, Lara, Strzelczyk, Adam
Publicado 2023

Implementation and Assessment of a Laparotomy-Assisted Three-Port Fetoscopic Spina Bifida Repair Program

por Keil, Corinna, Köhler, Siegmund, Sass, Benjamin, Schulze, Maximilian, Kalmus, Gerald, Belfort, Michael, Schmitt, Nicolas, Diehl, Daniele, King, Alice, Groß, Stefanie, Sutton, Caitlin D., Joyeux, Luc, Wege, Mirjam, Nimsky, Christopher, Whitehead, Wiliam E., Uhl, Eberhard, Huisman, Thierry A. G. M., Neubauer, Bernd A., Weber, Stefanie, Hummler, Helmut, Axt-Fliedner, Roland, Bedei, Ivonne
Publicado 2023

Rare gene deletions in genetic generalized and Rolandic epilepsies

por Jabbari, Kamel, Bobbili, Dheeraj R., Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Wolking, Stefan, Sinha, Vishal, Motameny, Susanne, Thiele, Holger, Kawalia, Amit, Altmüller, Janine, Toliat, Mohammad Reza, Kraaij, Robert, van Rooij, Jeroen, Uitterlinden, André G., Ikram, M. Arfan, Zara, Federico, Lehesjoki, Anna-Elina, Krause, Roland, Zimprich, Fritz, Sander, Thomas, Neubauer, Bernd A., May, Patrick, Lerche, Holger, Nürnberg, Peter
Publicado 2018

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

por Lal, Dennis, Reinthaler, Eva M., Dejanovic, Borislav, May, Patrick, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Günter, Riesch, Erik, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico, Hahn, Andreas, Gormley, Padhraig, Becker, Felicitas, Weber, Yvonne G., Cilio, Maria Roberta, Kunz, Wolfram S., Krause, Roland, Zimprich, Fritz, Lemke, Johannes R., Nürnberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd A.
Publicado 2016

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

por Miyake, Noriko, Wolf, Nicole I., Cayami, Ferdy K., Crawford, Joanna, Bley, Annette, Bulas, Dorothy, Conant, Alex, Bent, Stephen J., Gripp, Karen W., Hahn, Andreas, Humphray, Sean, Kimura-Ohba, Shihoko, Kingsbury, Zoya, Lajoie, Bryan R., Lal, Dennis, Micha, Dimitra, Pizzino, Amy, Sinke, Richard J., Sival, Deborah, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Ulrick, Nicole, Taft, Ryan J., Ogata, Tsutomu, Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas, Vanderver, Adeline
Publicado 2017

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

por Lal, Dennis, May, Patrick, Perez-Palma, Eduardo, Samocha, Kaitlin E., Kosmicki, Jack A., Robinson, Elise B., Møller, Rikke S., Krause, Roland, Nürnberg, Peter, Weckhuysen, Sarah, De Jonghe, Peter, Guerrini, Renzo, Niestroj, Lisa M., Du, Juliana, Marini, Carla, Ware, James S., Kurki, Mitja, Gormley, Padhraig, Tang, Sha, Wu, Sitao, Biskup, Saskia, Poduri, Annapurna, Neubauer, Bernd A., Koeleman, Bobby P. C., Helbig, Katherine L., Weber, Yvonne G., Helbig, Ingo, Majithia, Amit R., Palotie, Aarno, Daly, Mark J.
Publicado 2020

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

por Schänzer, Anne, Achleitner, Melanie T., Trümbach, Dietrich, Hubert, Laurence, Munnich, Arnold, Ahlemeyer, Barbara, AlAbdulrahim, Maha M., Greif, Philipp A., Vosberg, Sebastian, Hummer, Blake, Feichtinger, René G., Mayr, Johannes A., Wortmann, Saskia B., Aichner, Heidi, Rudnik-Schöneborn, Sabine, Ruiz, Anna, Gabau, Elisabeth, Sánchez, Jacobo Pérez, Ellard, Sian, Homfray, Tessa, Stals, Karen L., Wurst, Wolfgang, Neubauer, Bernd A., Acker, Till, Bohlander, Stefan K., Asensio, Cédric, Besmond, Claude, Alkuraya, Fowzan S., AlSayed, Moenaldeen D., Hahn, Andreas, Weber, Axel
Publicado 2021

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

por Lal, Dennis, Ruppert, Ann-Kathrin, Trucks, Holger, Schulz, Herbert, de Kovel, Carolien G., Kasteleijn-Nolst Trenité, Dorothée, Sonsma, Anja C. M., Koeleman, Bobby P., Lindhout, Dick, Weber, Yvonne G., Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Surges, Rainer, Elger, Christian E., Gaus, Verena, Schmitz, Bettina, Helbig, Ingo, Muhle, Hiltrud, Stephani, Ulrich, Klein, Karl M., Rosenow, Felix, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz, Feucht, Martha, Møller, Rikke S., Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Lieb, Wolfgang, Franke, Andre, Strauch, Konstantin, Gieger, Christian, Schurmann, Claudia, Schminke, Ulf, Nürnberg, Peter, Sander, Thomas
Publicado 2015

DNM1 encephalopathy: A new disease of vesicle fission

por von Spiczak, Sarah, Helbig, Katherine L., Shinde, Deepali N., Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E., Sarco, Dean P., Kaplan, Richard A., Dlugos, Dennis J., Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R., Cervenka, Mackenzie C., Cohen, Julie S., McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D., Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S., Palmer, Elizabeth, Lawson, John A., Campbell, Colleen A., Joshi, Charuta N., Kolbe, Diana L., Hollingsworth, Georgie, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E., Pena, Sérgio D.J., Sisodiya, Sanjay M., Helbig, Ingo
Publicado 2017

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

por Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
Publicado 2016