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	1.	Mortality and causes of death in children referred to a tertiary epilepsy center. [electronic resource] by Grønborg, Sabine Uldall, Peter Producer: 20141012 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Organelle interplay in peroxisomal disorders. [electronic resource] by Thoms, Sven Grønborg, Sabine Gärtner, Jutta Producer: 20090914 In: Trends in molecular medicine vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders. [electronic resource] by Grønborg, Sabine Krätzner, Ralph Rosewich, Hendrik Gärtner, Jutta Producer: 20130225 In: JIMD reports vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation. [electronic resource] by Grønborg, Sabine Kjaergaard, Susanne Hove, Hanne Larsen, Vibeke André Kirchhoff, Maria Producer: 20160829 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. [electronic resource] by Thoms, Sven Grønborg, Sabine Rabenau, Jana Ohlenbusch, Andreas Rosewich, Hendrik Gärtner, Jutta Producer: 20111026 In: BMC medical genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	[Exome sequencing for syndrome diagnostics]. [electronic resource] by Østergaard, Elsebet Risom, Lotte Ek, Jakob Grønborg, Sabine Dunø, Morten Skovby, Flemming Producer: 20181211 In: Ugeskrift for laeger vol. 179 Availability: No items available. Save to lists Add to cart (remove)
	7.	Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma. [electronic resource] by Grønborg, Sabine Krätzner, Ralph Spiegler, Juliane Ferdinandusse, Sacha Wanders, Ronald J A Waterham, Hans R Gärtner, Jutta Producer: 20110204 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling. [electronic resource] by Grønborg, Sabine Darin, Niklas Miranda, Maria J Damgaard, Bodil Cayuela, Jorge Asin Oldfors, Anders Kollberg, Gittan Hansen, Thomas V O Ravn, Kirstine Wibrand, Flemming Østergaard, Elsebet Publication details: JIMD reports 2017 In: JIMD reports vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. [electronic resource] by Mulkey, Sarah B Ben-Zeev, Bruria Nicolai, Joost Carroll, John L Grønborg, Sabine Jiang, Yong-Hui Joshi, Nishtha Kelly, Megan Koolen, David A Mikati, Mohamad A Park, Kristen Pearl, Phillip L Scheffer, Ingrid E Spillmann, Rebecca C Taglialatela, Maurizio Vieker, Silvia Weckhuysen, Sarah Cooper, Edward C Cilio, Maria Roberta Producer: 20170621 In: Epilepsia vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. [electronic resource] by Van Scherpenzeel, Monique Timal, Sharita Rymen, Daisy Hoischen, Alexander Wuhrer, Manfred Hipgrave-Ederveen, Agnes Grunewald, Stephanie Peanne, Romain Saada, Ann Edvardson, Shimon Grønborg, Sabine Ruijter, George Kattentidt-Mouravieva, Anna Brum, Jaime Moritz Freckmann, Mary-Louise Tomkins, Susan Jalan, Anil Prochazkova, Dagmar Ondruskova, Nina Hansikova, Hana Willemsen, Michel A Hensbergen, Paul J Matthijs, Gert Wevers, Ron A Veltman, Joris A Morava, Eva Lefeber, Dirk J Producer: 20140521 In: Brain : a journal of neurology vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. [electronic resource] by Weckhuysen, Sarah Ivanovic, Vanja Hendrickx, Rik Van Coster, Rudy Hjalgrim, Helle Møller, Rikke S Grønborg, Sabine Schoonjans, An-Sofie Ceulemans, Berten Heavin, Sinead B Eltze, Christin Horvath, Rita Casara, Gianluca Pisano, Tiziana Giordano, Lucio Rostasy, Kevin Haberlandt, Edda Albrecht, Beate Bevot, Andrea Benkel, Ira Syrbe, Steffan Sheidley, Beth Guerrini, Renzo Poduri, Annapurna Lemke, Johannes R Mandelstam, Simone Scheffer, Ingrid Angriman, Marco Striano, Pasquale Marini, Carla Suls, Arvid De Jonghe, Peter Producer: 20131223 In: Neurology vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. [electronic resource] by Garavelli, Livia Ivanovski, Ivan Caraffi, Stefano Giuseppe Santodirocco, Daniela Pollazzon, Marzia Cordelli, Duccio Maria Abdalla, Ebtesam Accorsi, Patrizia Adam, Margaret P Baldo, Chiara Bayat, Allan Belligni, Elga Bonvicini, Federico Breckpot, Jeroen Callewaert, Bert Cocchi, Guido Cuturilo, Goran Devriendt, Koenraad Dinulos, Mary Beth Djuric, Olivera Epifanio, Roberta Faravelli, Francesca Formisano, Debora Giordano, Lucio Grasso, Marina Grønborg, Sabine Iodice, Alessandro Iughetti, Lorenzo Lacombe, Didier Maggi, Massimo Malbora, Baris Mammi, Isabella Moutton, Sebastien Møller, Rikke Muschke, Petra Napoli, Manuela Pantaleoni, Chiara Pascarella, Rosario Pellicciari, Alessandro Poch-Olive, Maria Luisa Raviglione, Federico Rivieri, Francesca Russo, Carmela Savasta, Salvatore Scarano, Gioacchino Selicorni, Angelo Silengo, Margherita Sorge, Giovanni Tarani, Luigi Tone, Luis Gonzaga Toutain, Annick Trimouille, Aurelien Valera, Elvis Terci Vergano, Samantha Schrier Zanotta, Nicoletta Zollino, Marcella Dobyns, William B Paciorkowski, Alex R Producer: 20180213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. [electronic resource] by Maas, Saskia M Shaw, Adam C Bikker, Hennie Lüdecke, Hermann-Josef van der Tuin, Karin Badura-Stronka, Magdalena Belligni, Elga Biamino, Elisa Bonati, Maria Teresa Carvalho, Daniel R Cobben, JanMaarten de Man, Stella A Den Hollander, Nicolette S Di Donato, Nataliya Garavelli, Livia Grønborg, Sabine Herkert, Johanna C Hoogeboom, A Jeannette M Jamsheer, Aleksander Latos-Bielenska, Anna Maat-Kievit, Anneke Magnani, Cinzia Marcelis, Carlo Mathijssen, Inge B Nielsen, Maartje Otten, Ellen Ousager, Lilian B Pilch, Jacek Plomp, Astrid Poke, Gemma Poluha, Anna Posmyk, Renata Rieubland, Claudine Silengo, Margharita Simon, Marleen Steichen, Elisabeth Stumpel, Connie Szakszon, Katalin Polonkai, Edit van den Ende, Jenneke van der Steen, Antony van Essen, Ton van Haeringen, Arie van Hagen, Johanna M Verheij, Joke B G M Mannens, Marcel M Hennekam, Raoul C Producer: 20160216 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)