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Human Mutation|January 16, 2007
Low proportion of whole exon deletions causing phenylketonuria in Denmark and GermanyLisbeth Birk Møller, Anders O H Nygren, Patrick Scott, et al.
Human Mutation|May 13, 2008
High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genesMarco Groth, Karol Szafranski, Stefan Taudien, et al.
Cytogenetic and Genome Research|February 3, 2007
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairmentS K Murthy, A O H Nygren, H M El Shakankiry, et al.
The Journal of Pediatrics|July 29, 2014
Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5pAdam J Shapiro, Karen E Weck, Kay C Chao, et al.
The Journal of Molecular Diagnostics : JMD|November 25, 2015
Ultrasensitive Detection of Multiplexed Somatic Mutations Using MALDI-TOF Mass SpectrometryMichael J Mosko, Aleksey A Nakorchevsky, Eunice Flores, et al.
International Journal of Environmental Research and Public Health|March 11, 2020
Timed Up-and-Go Dual-Task Testing in the Assessment of Cognitive Function: A Mixed Methods Observational Study for Development of the UDDGait ProtocolYlva Cedervall, Anna M Stenberg, Hanna B Åhman, et al.
Nucleic Acids Research|August 18, 2005
Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequencesAnders O H Nygren, Najim Ameziane, Helena M B Duarte, et al.
Biochemistry|June 22, 2005
Precursors of novel Gla-containing conotoxins contain a carboxy-terminal recognition site that directs gamma-carboxylationMark A Brown, Gail S Begley, Eva Czerwiec, et al.
Journal of Virology|March 1, 1996
Murine cytomegalovirus with a deletion of genes spanning HindIII-J and -I displays altered cell and tissue tropismV J Cavanaugh, R M Stenberg, T L Staley, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 4, 2007
Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplificationAna Djarmati, Miodrag Guzvić, Anne Grünewald, et al.
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