Search Results - Lilian Bomme Ousager
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On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO by Ingemar Björkhem, Ulf Diczfalusy, Anita Lövgren‐Sandblom, Lena Starck, Monica Jönsson, Keri A. Tallman, Henrik Schirmer, Lilian Bomme Ousager, Peter J. Crick, Yuqin Wang, William J. Griffiths, F. Peter Guengerich
Published 2014Artigo -
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CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila by Christiane Zweier, Eiko K. de Jong, Markus Zweier, Alfredo Orrico, Lilian Bomme Ousager, Amanda Collins, Emilia K. Bijlsma, Merel A.W. Oortveld, Arif B. Ekici, André Reis, Annette Schenck, Anita Rauch
Published 2009Artigo -
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De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities by Sonja Martin, Adam Chamberlin, Deepali N. Shinde, Maja Hempel, Tim M. Strom, Allison Schreiber, Jessika Johannsen, Lilian Bomme Ousager, Martin J. Larsen, Lars Kjærsgaard Hansen, Ali Fatemi, Julie S. Cohen, Johannes R. Lemke, Kristina P. Sørensen, Katherine L. Helbig, Davor Lessel, Rami Abou Jamra
Published 2017Artigo -
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Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5) by Julia Pagel, Karin Beutel, Kai Lehmberg, Florian Koch, Andrea Maul‐Pavicic, Anna‐Katharina Rohlfs, Abdullah Al‐Jefri, Rita Beier, Lilian Bomme Ousager, Karoline Ehlert, U. Gross‐Wieltsch, Norbert Jorch, Bernhard Kremens, Arnulf Pekrun, Monika Sparber‐Sauer, Ester Mejstříková, Angela Wawer, Stephan Ehl, Udo zur Stadt, Gritta Janka
Published 2012Artigo -
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Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice by Aia Elise Jønch, Élise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, R. Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurélie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne‐Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke S. Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch‐Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont
Published 2019Revisão -
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von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance by Marie Louise Mølgaard Binderup, Maja Patricia Smerdel, Line Borgwadt, Signe Sparre Beck‐Nielsen, Mia Gebauer Madsen, Hans Ulrik Møller, Jens Folke Kiilgaard, Lennart Friis‐Hansen, Vibeke Harbud, Søren Cortnum, Hanne Owen, Steen Gimsing, Henning Anker Friis Juhl, Sune Munthe, Marianne Geilswijk, Åse Krogh Rasmussen, Ulla Møldrup, Ole Graumann, Frede Donskov, Henning Grønbæk, Brian Stausbøl‐Grøn, Ove B. Schaffalitzky de Muckadell, Ulrich Knigge, Gitte Dam, Karin Wadt, Lars Bøgeskov, Per Bagi, Lars Lund, Kirstine Stochholm, Lilian Bomme Ousager, Lone Sunde
Published 2022Artigo -
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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder by Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello‐Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange‐Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M.A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martı́nez, Naomichi Matsumoto, Carey McDougall, Heather C Mefford, Noriko Miyake, Candace T. Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Mónica Roselló, Ken Saida, Avni Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, André Reis, Heinrich Sticht, Christiane Zweier
Published 2018Artigo -
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Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome by Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam
Published 2015Artigo -
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Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature by Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, Christel Depienne, Milda Endzinienė, Carlos R. Ferreira, Carolina Fischinger Moura de Souza, Cécile Freihuber, Shiva Ganesan, Svetlana Gataullina, Renzo Guerrini, Anne‐Marie Guerrot, Lars Hestbjerg Hansen, Aleksandra Jezela‐Stanek, C. Karsenty, Anneke Kievit, R. Frank Kooy, Christian Korff, Johanne Kragh Hansen, Martin J. Larsen, Valérie Layet, Gaëtan Lesca, Kim L. McBride, Marije Meuwissen, Cyril Mignot, Martino Montomoli, Hannah W. Moore, Sophie Naudion, Caroline Nava, Marie‐Christine Nouguès, Elena Parrini, Matthew Pastore, Jurgen Schelhaas, Steven A. Skinner, Krzysztof Szczałuba, Ashley Thomas, Mads Thomassen, Lisbeth Tranebjærg, Marjon van Slegtenhorst, Lynne A. Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, Rikke S. Møller
Published 2020Revisão -
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Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder by Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander P.A. Stegmann, Richard H. van Jaarsveld, Koen L.I. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker‐Touw, Sjoerd J.B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch‐Andersen, Wallid Deb, Thomas Besnard, Marleen Simon, Karin Huijsdens–van Amsterdam, Nienke E. Verbeek, Dena R. Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koenraad Devriendt, Anneleen Boogaerts, Marjolein H. Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. de Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cuscó, Eulàlia Rovira‐Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frédéric Tran Mau‐Them, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Stéphane Bézieau, Benjamin Cogné
Published 2022Artigo -
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy by Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Élise Schaefer, Hatice Karasoy, Melissa A Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz‐Laguna, Carina Wallgren‐Pettersson, James J. Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary Sousa Bulle Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, A. Furby, José Eulalio Bárcena, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin‐Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine D. Mathews, Lori A.H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean‐Louis Mandel, Alan H. Beggs, Jocelyn Laporte
Published 2012Artigo -
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<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes by María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, Christopher Tan, Ilaria Parenti, Carolina Baquero‐Montoya, Lilian Bomme Ousager, Beatriz Puisac, María Hernández-Marcos, Maria Esperanza Teresa‐Rodrigo, Íñigo Marcos‐Alcalde, Jan-Jaap Wesselink, Silvia Lusa-Bernal, Emilia K. Bijlsma, Diana Braunholz, Inés Bueno-Martínez, Dinah Clark, Nicola Cooper, Cynthia J. Curry, Richard Fisher, Alan Fryer, Jaya Ganesh, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Yiran Guo, Hákon Hákonarson, Robert J. Hopkin, Maninder Kaur, Brendan J. Keating, Maria Kibæk, Esther Kinning, Tjitske Kleefstra, Antonie D. Kline, Ekaterina Kuchinskaya, Lidia Larizza, Leslie A. Lange, Xuanzhu Liu, Milena Mariani, Jonathan Picker, Ángeles Pié, Jelena Pozojevic, Ethel Queralt, Julie Richer, Elizabeth Roeder, Anubha Sinha, Richard H. Scott, Joyce So, Katherine Wusik, Louise C. Wilson, Jianguo Zhang, Paulino Gómez‐Puertas, César H. Casale, Lena Ström, Angelo Selicorni, Feliciano J. Ramos, Laird G. Jackson, Ian D. Krantz, Soma Das, Raoul C. M. Hennekam, Frank J. Kaiser, David Fitzpatrick, Juan Pié
Published 2015Artigo -
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes by Hao Hu, Stefan A. Haas, Jamel Chelly, Hilde Van Esch, Martine Raynaud, Arjan P.M. de Brouwer, Stefanie Weinert, Guy Froyen, Suzanna G.M. Frints, Frédéric Laumonnier, Tomasz Żemojtel, Michael I. Love, Hugues Richard, A-K Emde, Melanie Bienek, Corinna Jensen, M Hambrock, Utz Fischer, Claudia Langnick, Mirjam Feldkamp, W.M. Wissink-Lindhout, Nicolas Lebrun, L. Castelnau, J. Rucci, Rodrick Montjean, Olivier Dorseuil, Pierre Billuart, Till Stuhlmann, M Shaw, Mark Corbett, Alison Gardner, Saffron A.G. Willis‐Owen, Chuan Tan, Kathryn Friend, Stefanie Belet, Kees E. P. van Roozendaal, M Jimenez-Pocquet, M.‐P. Moizard, Nathalie Ronce, Ren Sun, Sean O’Keeffe, R Chenna, Alena van Bömmel, Jonathan Göke, Anna Hackett, Michael Field, Louise Christie, Jackie Boyle, Eric Haan, John W. Nelson, Gillian Turner, Gareth Baynam, Gabriele Gillessen‐Kaesbach, Ulrich Müller, Daniela Steinberger, Bartłomiej Budny, Magdalena Badura‐Stronka, Anna Latos‐Bieleńska, Lilian Bomme Ousager, Peter Wieacker, Germán Rodríguez Criado, M.-L. Bondeson, Göran Annerén, Andreas Dufke, Monika Cohen, Lionel Van Maldergem, C. Vincent‐Delorme, Bernard Échenne, Brigitte Simon‐Bouy, Tjitske Kleefstra, Marjolein H. Willemsen, J-P. Fryns, Koenraad Devriendt, Reinhard Ullmann, Martin Vingron, Klaus Wrogemann, Thomas F. Wienker, Andreas Tzschach, Hans van Bokhoven, Jozef Gécz, Thomas J. Jentsch, W. Chen, H‐H Ropers, Vera M. Kalscheuer
Published 2015Artigo -
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature by Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, M. Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B.A. de Vries, A. Chantal Deden, Erika Leenders, Michael Kwint, Constance T. R. M. Stumpel, Servi J.C. Stevens, Jeroen R. Vermeulen, Jeske van Harssel, Daniëlle G.M. Bosch, Koen L.I. van Gassen, Ellen van Binsbergen, Christa M. de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan B. Strober, Amy Crunk, Leandra Folk, Ingrid M. Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian Bomme Ousager, Martin J. Larsen, Laura Schultz‐Rogers, Éva Morava, Eric W. Klee, Ian Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M. Neumeyer, Jessica A. Radley, Chanika Phornphutkul, Berkley Schmidt, William G. Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos‐Simarro, María Palomares‐Bralo, Marta Pacio‐Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Leah J. Rowe, Jason Bunn, Margarita Sáenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J.M. Nowaczyk, Ronald D. Cohn, Pekka Kannus, Ebba Alkhunaizi, David Chitayat, Stephen W. Scherer, Han G. Brunner, Lisenka E.L.M. Vissers, Tjitske Kleefstra, David A. Koolen, Rosanna Weksberg
Published 2021Artigo -
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases by Alistair T. Pagnamenta, Carlos Camps, Edoardo Giacopuzzi, John Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schweßinger, Jim R. Hughes, Gerton Lunter, Hélène Dreau, Matteo P. Ferla, Lukas Lange, Yeşim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Banos‐Pinero, David Beeson, Tal Ben‐Ami, David Bennett, Celeste Bento, Edward Blair, Charlotte Brasch‐Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Dong Yin, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg A. Holländer, M K Javaid, Maureen A. Kane, Déirdre Kelly, Dominic F. Kelly, Samantha J.L. Knight, Alexandra Y. Kreins, Erika Kvikstad, Craig B. Langman, Tracy Lester, Kate E Lines, Simon Lord, Xin Lü, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian D. Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlčochová, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Christopher W. Pugh, Abolfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R.F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven A. Wall, Jing Wang, Hugh Watkins, Jaroslav Žák, Anna Schuh, Usha Kini, Andrew O.M. Wilkie, Niko Popitsch, Jenny C. Taylor
Published 2023Artigo -
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Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders by Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand, Zirui Dong, Malene Bøgehus Rasmussen, Huiya Gu, David Weisz, Lusine Nazaryan‐Petersen, Amanda S. Fjorder, Yuan Mang, Allan Lind-Thomsen, Juan M. M. Mendez, Xabier Calle, Anuja Chopra, Claus Hansen, Merete Bugge, Roeland Broekema, Teppo Varilo, Tiia Maria Luukkonen, J.J.M. Engelen, Angela Maria Vianna‐Morgante, Ana Carolina Fonseca, Juliana F. Mazzeu, Halinna Dornelles-Wawruk, Kikue Terada Abe, Joris Vermeesch, Kris Van Den Bogaert, Carolina Sismani, Constantia Aristidou, Paola Evangelidou, Albert Schinzel, Damien Sanlaville, Caroline Schluth–Bolard, Vera M. Kalscheuer, Maren Wenzel, Hyung‐Goo Kim, Katrin Õunap, Laura Roht, Susanna Midyan, María Clara Bonaglia, Anna Lindstrand, Jesper Eisfeldt, Jesper Ottosson, Daniel Nilsson, Maria Pettersson, Elenice Ferreira Bastos, Evica Rajcan‐Separovic, Fatma Sılan, Frenny Sheth, Antonio Novelli, Eirik Frengen, Madeleine Fannemel, Petter Strømme, Nadja Kokalj Vokač, Cornelia Daumer‐Haas, Danilo Moretti‐Ferreira, Deise Helena de Souza, María A. Ramos‐Arroyo, Maria M. Igoa, Lyudmila Angelova, Peter M. Kroisel, Graciela del Rey, Társis Paiva Vieira, M. E. Suzanne Lewis, Hao Wang, Jana Drabova, Markéta Havlovičová, Miroslava Hančárová, Zdeněk Sedláček, Ida Vogel, Tina Duelund Hjortshøj, Rikke S. Møller, Zeynep Tümer, Christina Fagerberg, Lilian Bomme Ousager, Bitten Schönewolf‐Greulich, Mathilde Lauridsen, Juliette Piard, Céline Pebrel‐Richard, Sylvie Jaillard, Nadja Ehmke, Eunice G. Stefanou, Czakó Marta, Kosztolányi György, Ashwin Dalal, Usha R. Dutta, Rashmi Shukla, Fortunato Lonardo, Orsetta Zuffardi, Gunnar Houge, Doriana Misceo, Shahid Mahmood Baig, Alina T. Midro, Natalia Wawrusiewicz‐Kurylonek, Isabel M. Carreira, Joana Barbosa Melo, Laura Rodriguez Martinez
Published 2022Pré-impressão
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