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	21.	Whole Genome Sequencing of [electronic resource] by Nedergaard, Signe Kobel, Carl M Nielsen, Marie B Møller, Rikke T Jensen, Anne B Nørskov-Lauritsen, Niels Publication details: Pathogens (Basel, Switzerland) Nov 2019 In: Pathogens (Basel, Switzerland) vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. [electronic resource] by Sehested, Line T Møller, Rikke S Bache, Iben Andersen, Noemi B Ullmann, Reinhard Tommerup, Niels Tümer, Zeynep Producer: 20110315 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)
	23.	Spectrum of GABAA receptor variants in epilepsy. [electronic resource] by Maljevic, Snezana Møller, Rikke S Reid, Christopher A Pérez-Palma, Eduardo Lal, Dennis May, Patrick Lerche, Holger Producer: 20200110 In: Current opinion in neurology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. [electronic resource] by Møller, Rikke S Schneider, Lizette M Hansen, Christian P Bugge, Merete Ullmann, Reinhard Tommerup, Niels Tümer, Zeynep Producer: 20080625 In: Epilepsia vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Early mortality in SCN8A-related epilepsies. [electronic resource] by Johannesen, Katrine M Gardella, Elena Scheffer, Ingrid Howell, Katherine Smith, Douglas M Helbig, Ingo Møller, Rikke S Rubboli, Guido Producer: 20190326 In: Epilepsy research vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Clinical Phenotype of De Novo [electronic resource] by Talvik, Inga Møller, Rikke S Vaher, Merilin Vaher, Ulvi Larsen, Line Hg Dahl, Hans A Ilves, Pilvi Talvik, Tiina Publication details: Child neurology open In: Child neurology open vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. [electronic resource] by Kariminejad, Roxana Lind-Thomsen, Allan Tümer, Zeynep Erdogan, Fikret Ropers, Hans H Tommerup, Niels Ullmann, Reinhard Møller, Rikke S Producer: 20120327 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	A cryptic unbalanced translocation resulting in del 13q and dup 15q. [electronic resource] by Tészás, Alexandra Møller, Rikke S Kellermayer, Richard Czakó, Márta Kjaer, Klaus W Ullmann, Reinhard Melegh, Béla Tommerup, Niels Kosztolányi, György Producer: 20081113 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a "pure" model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study. [electronic resource] by Pavlidis, Elena Møller, Rikke S Nikanorova, Marina Kölmel, Margarethe Sophie Stendevad, Pia Beniczky, Sandor Tassinari, Carlo Alberto Rubboli, Guido Gardella, Elena Producer: 20200702 In: Epilepsy & behavior : E&B vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Protein biomarkers and coronary microvascular dilatation assessed by rubidium-82 PET in women with angina pectoris and no obstructive coronary artery disease. [electronic resource] by Schroder, Jakob Zethner-Moller, Rikke Bové, Kira Bang Mygind, Naja Dam Hasbak, Philip Michelsen, Marie Mide Gustafsson, Ida Kastrup, Jens Prescott, Eva Producer: 20191022 In: Atherosclerosis vol. 275 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations. [electronic resource] by Pavlidis, Elena Uldall, Peter Gøbel Madsen, Camilla Nikanorova, Marina Fabricius, Martin Høgenhaven, Hans Pisani, Francesco Møller, Rikke S Gardella, Elena Rubboli, Guido Producer: 20180406 In: Epileptic disorders : international epilepsy journal with videotape vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. [electronic resource] by Duong, Linh Klitten, Laura L Møller, Rikke S Ingason, Andrés Jakobsen, Klaus D Skjødt, Celina Didriksen, Michael Hjalgrim, Helle Werge, Thomas Tommerup, Niels Producer: 20121005 In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 159B Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	A novel in-frame mutation in [electronic resource] by Sher, Muhammad Farooq, Muhammad Abdullah, Uzma Ali, Zafar Faryal, Sanam Zakaria, Mohammad Ullah, Farid Bukhari, Hassan Møller, Rikke S Tommerup, Niels Baig, Shahid Mahmood Producer: 20200106 In: The International journal of neuroscience vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Fluorescently labelled bovine acyl-CoA-binding protein acting as an acyl-CoA sensor: interaction with CoA and acyl-CoA esters and its use in measuring free acyl-CoA esters and non-esterified fatty acids. [electronic resource] by Wadum, Majken C T Villadsen, Jens K Feddersen, Søren Møller, Rikke S Neergaard, Thomas B F Kragelund, Birthe B Højrup, Peter Faergeman, Nils J Knudsen, Jens Producer: 20020726 In: The Biochemical journal vol. 365 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. [electronic resource] by Zhang, Litu Tümer, Zeynep Møllgård, Kjeld Barbi, Gotthold Rossier, Eva Bendsen, Eske Møller, Rikke Steensbjerre Ullmann, Reinhard He, Jian Papadopoulos, Nickolas Tommerup, Niels Larsen, Lars Allan Producer: 20091008 In: European journal of human genetics : EJHG vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. [electronic resource] by López-Rivera, Javier A Pérez-Palma, Eduardo Symonds, Joseph Lindy, Amanda S McKnight, Dianalee A Leu, Costin Zuberi, Sameer Brunklaus, Andreas Møller, Rikke S Lal, Dennis Producer: 20200731 In: Brain : a journal of neurology vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Sequence analysis of 17 NRXN1 deletions. [electronic resource] by Enggaard Hoeffding, Louise Kristine Hansen, Thomas Ingason, Andrés Doung, Linh Thygesen, Johan H Møller, Rikke S Tommerup, Niels Kirov, George Rujescu, Dan Larsen, Lars A Werge, Thomas Producer: 20140828 In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 165B Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome. [electronic resource] by Lund, Caroline Striano, Pasquale Sorte, Hanne Sørmo Parisi, Pasquale Iacomino, Michele Sheng, Ying Vigeland, Magnus D Øye, Anne-Marte Møller, Rikke Steensbjerre Selmer, Kaja K Zara, Federico Publication details: Molecular syndromology Sep 2016 In: Molecular syndromology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy. [electronic resource] by Kolc, Kristy L Sadleir, Lynette G Depienne, Christel Marini, Carla Scheffer, Ingrid E Møller, Rikke S Trivisano, Marina Specchio, Nicola Pham, Duyen Kumar, Raman Roberts, Rachel Gecz, Jozef Producer: 20210618 In: Translational psychiatry vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. [electronic resource] by Møller, Rikke S Kübart, Sabine Hoeltzenbein, Maria Heye, Babett Vogel, Ida Hansen, Christian P Menzel, Corinna Ullmann, Reinhard Tommerup, Niels Ropers, Hans-Hilger Tümer, Zeynep Kalscheuer, Vera M Producer: 20080716 In: American journal of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 130 results.