Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities
Muir, Alison M., Cohen, Jennifer L., Sheppard, Sarah E., Guttipatti, Pavithran, Lo, Tsz Y., Weed, Natalie, Doherty, Dan, DeMarzo, Danielle, Fagerberg, Christina R., Kjærsgaard, Lars, Larsen, Martin J., Rump, Patrick, Löhner, Katharina, Hirsch, Yoel, Zeevi, David A., Zackai, Elaine H., Bhoj, Elizabeth, Song, Yuanquan, Mefford, Heather C.
Published in American journal of human genetics (07.05.2020)
Published in American journal of human genetics (07.05.2020)
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Neurologic phenotypes associated with COL4A1 / 2 mutations: Expanding the spectrum of disease
Zagaglia, Sara, Selch, Christina, Nisevic, Jelena Radic, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S, Vezyroglou, Katharina, Varadkar, Sophia M, Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S, Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L, Desai, Sonal, Smith-Hicks, Constance L, Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M, Striano, Pasquale, Thomas, Rhys H, Micallef, Caroline, Thom, Maria, Werring, David J, Kluger, Gerhard Josef, Cross, J Helen, Guerrini, Renzo, Balestrini, Simona, Sisodiya, Sanjay M
Published in Neurology (27.11.2018)
Published in Neurology (27.11.2018)
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Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study
Helleskov, Annett, Melikyan, Maria, Globa, Evgenia, Shcherderkina, Inna, Poertner, Fani, Larsen, Anna-Maria, Filipsen, Karen, Brusgaard, Klaus, Christiansen, Charlotte Dahl, Hansen, Lars Kjaersgaard, Christesen, Henrik T
Published in Frontiers in endocrinology (Lausanne) (10.07.2017)
Published in Frontiers in endocrinology (Lausanne) (10.07.2017)
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Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans
Qi, Cai, Feng, Irena, Costa, Ana Rita, Pinto-Costa, Rita, Neil, Jennifer E., Caluseriu, Oana, Li, Dong, Ganetzky, Rebecca D., Brasch-Andersen, Charlotte, Fagerberg, Christina, Hansen, Lars Kjærsgaard, Bupp, Caleb, Muraresku, Colleen Clarke, Ruan, Xiangbin, Kang, Bowei, Hu, Kaining, Zhong, Rong, Brites, Pedro, Bhoj, Elizabeth J., Hill, Robert Sean, Falk, Marni J., Hakonarson, Hakon, Kahle, Kristopher T., Sousa, Monica M., Walsh, Christopher A., Zhang, Xiaochang
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Tsai, Anne Chun-Hui, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Published in HGG advances (14.07.2022)
Published in HGG advances (14.07.2022)
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The use of instrumented gait analysis for individually tailored interdisciplinary interventions in children with cerebral palsy: a randomised controlled trial protocol
Rasmussen, Helle Mätzke, Pedersen, Niels Wisbech, Overgaard, Søren, Hansen, Lars Kjaersgaard, Dunkhase-Heinl, Ulrike, Petkov, Yanko, Engell, Vilhelm, Baker, Richard, Holsgaard-Larsen, Anders
Published in BMC pediatrics (07.12.2015)
Published in BMC pediatrics (07.12.2015)
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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Chun-Hui Tsai, Anne, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Published in HGG advances (12.01.2023)
Published in HGG advances (12.01.2023)
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Are selective lung recruitment maneuvers hemodynamically safe in severe hypovolemia? An experimental study in hypovolemic pigs with lobar collapse
HANSEN, Lars Kjaersgaard, KOEFOED-NIELSEN, Jacob, NIELSEN, Jonas, LARSSON, Anders
Published in Anesthesia and analgesia (01.09.2007)
Published in Anesthesia and analgesia (01.09.2007)
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert B A, Vissers, Lisenka E L M, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E H, van Gassen, Koen L I, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E
Published in Genome medicine (19.04.2021)
Published in Genome medicine (19.04.2021)
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Does a solitary lobar collapse give pressure-lung volume relationship similar to that found in acute respiratory distress syndrome? A porcine experimental study
Koefoed-Nielsen, Jacob, Hansen, Lars Kjærsgaard, Larsson, Anders
Published in Clinical physiology and functional imaging (01.11.2008)
Published in Clinical physiology and functional imaging (01.11.2008)
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Selective Recruitment Maneuvers for Lobar Atelectasis: Effects on Lung Function and Central Hemodynamics: An Experimental Study in Pigs
Hansen, Lars Kjærsgaard, Sloth, Erik, Nielsen, Jonas, Koefoed-Nielsen, Jacob, Lambert, Per, Lunde, Søren, Larsson, Anders
Published in Anesthesia and analgesia (01.05.2006)
Published in Anesthesia and analgesia (01.05.2006)
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Early-onset epileptic encephalopathy caused by CDKL5 mutation
Hjalmgrim, Helle, Hansen, Lars Kjærsgaard, Ousager, Lilian Bomme, Møller, Rikke Steensbjerre
Published in Ugeskrift for læger (15.12.2014)
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Published in Ugeskrift for læger (15.12.2014)
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Rare syndrome as a differential diagnosis in significant freckle formation
Lings, Kristina, Lauridsen, Mathilde Faurholdt, Hansen, Lars Kjærsgaard
Published in Ugeskrift for læger (21.11.2016)
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Published in Ugeskrift for læger (21.11.2016)
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