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Hayer, Helle, Busk, Øyvind L, Esbensen, Q. Ying, Rasby, Oddveig, Hilmarsen, Hilde T, Russell, Michael B, Nyman, Tuula A, Braathen, Geir J, Nilsen, Hilde L
Published in BMC neurology (15.08.2022)
Published in BMC neurology (15.08.2022)
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Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene
Al Mandhari, Hilal, Al‐Musalhi, Buthaina, Al Mahroqi, Nouh, Hilmarsen, Hilde T., Braathen, Geir J., Khnykin, Denis
Published in International journal of dermatology (01.03.2021)
Published in International journal of dermatology (01.03.2021)
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A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
Høyer, Helle, Hilmarsen, Hilde T, Sunder-Plassmann, Raute, Braathen, Geir J, Andersen, Peter M, Beetz, Christian, Hacker, Sandra, Holla, Øystein L, Kurth, Ingo, Löscher, Wolfgang N, Reiter, Simone B C F, Rudnik-Schöneborn, Sabine, Strand, Linda, Windhager, Reinhard, Witsch-Baumgartner, Martina, Senderek, Jan, Auer-Grumbach, Michaela
Published in Journal of medical genetics (01.10.2022)
Published in Journal of medical genetics (01.10.2022)
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Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing
Skjelbred, Camilla F., Russell, Michael B., Høyer, Helle, Strand, Linda, Hilmarsen, Hilde T., Svendsen, Marit, Braathen, Geir J., Busk, Øyvind L., Holla, Øystein L.
Published in BioMed research international (01.01.2014)
Published in BioMed research international (01.01.2014)
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Corrigendum to “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing”
Russell, Michael B., Skjelbred, Camilla F., Hilmarsen, Hilde T., Svendsen, Marit, Holla, Øystein L., Busk, Øyvind L., Braathen, Geir J., Høyer, Helle, Strand, Linda
Published in BioMed research international (01.01.2015)
Published in BioMed research international (01.01.2015)
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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Crow, Yanick J, Marshall, Heather, Rice, Gillian I, Seabra, Luis, Jenkinson, Emma M, Baranano, Kristin, Battini, Roberta, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas, Bolduc, Francois, Boddaert, Natalie, Buckard, Johannes, Burnett, Heather, Calvert, Sophie, Caumes, Roseline, Ng, Andy Cheuk‐Him, Chiang, Diana, Clifford, David B, Cordelli, Duccio M, Burca, Anna, Demic, Natasha, Desguerre, Isabelle, De Waele, Liesbeth, Di Fonzo, Alessio, Dunham, S. Richard, Dyack, Sarah, Elmslie, Frances, Ferrand, Mickaël, Fisher, Gemma, Karimiani, Ehsan Ghayoor, Ghoumid, Jamal, Gibbon, Frances, Goel, Himanshu, Hilmarsen, Hilde T, Hughes, Imelda, Jacob, Anu, Jones, Elizabeth A, Kumar, Ram, Leventer, Richard J, MacDonald, Shelley, Maroofian, Reza, Mehta, Sarju G, Metz, Imke, Monfrini, Edoardo, Neumann, Daniela, Noetzel, Michael, O'Driscoll, Mary, Õunap, Katrin, Panzer, Axel, Parikh, Sumit, Prabhakar, Prab, Ramond, Francis, Sandford, Richard, Saneto, Russell, Soh, Calvin, Stutterd, Chloe A, Subramanian, Gopinath M, Talbot, Kevin, Thomas, Rhys H, Toro, Camilo, Touraine, Renaud, Wakeling, Emma, Wassmer, Evangeline, Whitney, Andrea, Livingston, John H, O'Keefe, Raymond T, Badrock, Andrew P
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
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Clinical exome sequencing – Norwegian findings
Holla, Øystein L, Busk, Øyvind L, Tveten, Kristian, Hilmarsen, Hilde T, Strand, Linda, Høyer, Helle, Bakken, Anette, Skjelbred, Camilla F, Braathen, Geir J
Published in Tidsskrift for den Norske Lægeforening (03.11.2015)
Published in Tidsskrift for den Norske Lægeforening (03.11.2015)
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Diagnostisk eksomsekvensering – norske erfaringer
Holla, Øystein Lunde, Busk, Øyvind Løvold, Tveten, Kristian, Hilmarsen, Hilde Tveitan, Strand, Linda, Høyer, Helle, Bakken, Anette, Skjelbred, Camilla Furu, Braathen, Geir Julius
Published in Tidsskrift for den Norske Lægeforening (2015)
Published in Tidsskrift for den Norske Lægeforening (2015)
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Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene
Al Mandhari, Hilal, Al-Musalhi, Buthaina, Al Mahroqi, Nouh, Hilmarsen, Hilde T, Braathen, Geir J, Khnykin, Denis
Published in International journal of dermatology (01.03.2021)
Published in International journal of dermatology (01.03.2021)
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