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Per Knappskog; Hans Geir Eiken; Aurora Martinez
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Øivind Fredvik Torkildsen; Per Knappskog; Harald Inge Nyland
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Barbara Franke; Alejandro Arias Vasquez; Stefan Johansson
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Siv Aarnes; Snorre Hagen; Rune Andreassen
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Marta Ribases; Rosa Bosch; Amaia Hervas
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François Rousseau; Jean-François Gauchat; James G. McLeod
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T.F. Olsen; Hans Geir Eiken; P.M. Knappskog
et al. (1996). Mutations in the Induronate 2-sulfatase gene in five Norwegians with Hunter syndrome. (ekstern lenke)
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Carl Wibom; Lina Mörén; Mads Aarhus
et al. (2009). Proteomic profiles differ between bone invasive and noninvasive benign meningiomas of fibrous and meningothelial subtype. (ekstern lenke)
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et al. (2021). The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients. (ekstern lenke)
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et al. (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. (ekstern lenke)
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M Melone; M Pellegrino; M Nolano
et al. (2014). Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5
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Per Knappskog; Jan Haavik
(1995). Tryptophan fluorescence of human phenylalanine hydroxylase produced in Escherichia coli. (ekstern lenke)
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I Dianzani; Per Knappskog; L de Sanctis
et al. (1995). Novel missence mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity. (ekstern lenke)
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H Erlandsen; Aurora Martinez; Per Knappskog
et al. (1997). Crystallization and preliminary diffraction analysis of a truncated homodimer of human phenylalanine hydroxylase. (ekstern lenke)
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Aril Løge Håvik; Ove Bruland; Erling Myrseth
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Irene Hana Flønes; Pawel Szymon Sztromwasser; Kristoffer Haugarvoll
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B. Lüdecke; Per Knappskog; P. T. Clayton
et al. (1996). Recessively inherited L-DOPA-responsive Parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. (ekstern lenke)
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Ståle Ellingsen; Per Knappskog; Jaran Apold
et al. (1999). Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsesense (G272X, Y356X) and missense (P281L, R408Q) mutations. (ekstern lenke)
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Hans Geir Eiken; Per Knappskog; Jaran Apold
et al. (1992). A de novo phenylketonuria mutation: ATG(Met) to ATA(Ile) in the start codon of the phenylalanine hydroxylase gene. (ekstern lenke)
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Hans Geir Eiken; K. Stangeland; L. Skjelkvåle
et al. (1992). PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions, and phenotype characteristics. (ekstern lenke)
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Frederiko Miranda; Knut Teigen; Matthias Thorolfsson
et al. (2002). Phosphorylation and mutations of Ser16 in human phenylalanine hydroxylase. Kinetic and structural effects. (ekstern lenke)
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Elisa Bjørgo; Per Knappskog; Aurora Martínez
et al. (1998). Expression, characterization and 3D-structural localization of eight phnylketonuria mutations in exon 7 of the human phenylalanine hydroxylase gene. (ekstern lenke)
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Ingeborg Winge; Jeffrey Alan Mckinney; Per Knappskog
et al. (2006). Characterization og wild-type and mutant forms of human trytopan hydroxylase 2. (ekstern lenke)
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Paula Rovira; Ditte Demontis; Cristina Sánchez-Mora
et al. (2020). Shared genetic background between children and adults with attention deficit/hyperactivity disorder. (ekstern lenke)
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Mads Aarhus; Hege Aase Sætran; Sverre Mørk
et al. (2010). Global Gene Expression Profiling and Tissue Microarray Reveal Novel Candidate Genes and Down-Regulation of the Tumor Suppressor Gene CAV1 in Sporadic Vestibular Schwannomas. (ekstern lenke)
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AF Hahn; D.L Jones; Per Knappskog
et al. (2006). Cold-induced sweating syndrome. A report of two cases and demonstration of genetic heterogeneity. (ekstern lenke)
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Rune Kleppe; K Uhlemann; Per Knappskog
et al. (1999). Urea-induced denaturation of human phenylalanine hydroxylase. (ekstern lenke)
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V Schünemann; C Meier; W Meyer-Klaucke
et al. (1999). Iron coordination geometry in full-length, truncated, and dehydrated forms of human tyrosine hydroxylase studied by Mossbauer and X-ray spectroscopy. (ekstern lenke)
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Torunn Fiskerstrand; Per Knappskog; Jacek Majewski
et al. (2009). A novel Refsum-like disorder that maps to chromosome 20. (ekstern lenke)
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Kristoffer Haugarvoll; Stefan Johansson; Carlos E. Rodriguez
et al. (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. (ekstern lenke)
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Bergithe Eikeland Oftedal; Amund Holte Berger; Øyvind Bruserud
et al. (2023). A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1. (ekstern lenke)
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Hans Geir Eiken; Per Knappskog; K. Motzfeldt
et al. (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. (ekstern lenke)
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Anne Grethe Myhre; A. Stray-Pedersen; S. Spangen
et al. (2004). Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. (ekstern lenke)
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P.J Waters; A.C Hewson; C.R Scriver
et al. (1997). Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme. (ekstern lenke)
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Angelika F. Hahn; Per Erik Waaler; Per Helge Kvistad
et al. (2010). Cold-induced sweating syndrome: CISS1 and CISS2 Manifestations from infancy to adulthood. Four new cases. (ekstern lenke)
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Cecilie Bredrup; Sophie Saunier; Machteld M. Oud
et al. (2011). Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. (ekstern lenke)
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Haydee Artaza; Daniel Eriksson; Ksenia Lavrichenko
et al. (2024). Rare copy number variation in autoimmune Addison’s disease. (ekstern lenke)
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Aril Løge Håvik; Ove Bruland; Hrvoje Miletic
et al. (2021). Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma. (ekstern lenke)
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Sven Cichon; Ingeborg Winge; Manuel Mattheisen
et al. (2008). Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5 '-region are associated with bipolar affective disorder. (ekstern lenke)
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Hans Geir Eiken; Per Knappskog; Jaran Apold
et al. (1996). PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. (ekstern lenke)
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Behayan Tüysüz; Özgür Kasapçopur; Cengiz Yalçınkaya
et al. (2013). Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene. (ekstern lenke)
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T.C. Olsen; Hans Geir Eiken; Per Knappskog
et al. (1996). Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. (ekstern lenke)
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Cecilie Bredrup; Per Knappskog; Jacek Majewski
et al. (2005). Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. (ekstern lenke)
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Per Morten Knappskog; J Majewski; A Livneh
et al. (2003). Cold-induced sweating syndrome is caused by mutations in the CRLgene. (ekstern lenke)
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Maxence S. Macia; Jan Halbritter; Marion Delous
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Per Knappskog; Hans Geir Eiken; Aurora Martinez
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Josephine Prener Holtan; Ingvild Aukrust; Ragnhild Wivestad Jansson
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Kjersti Eline Stige; Ivar Otto Gjerde; Gunnar Douzgos Houge
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Cristina Sánchez-Mora; Marta Ribases; Josep Antonio Ramos-Quiroga
et al. (2010). Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. (ekstern lenke)
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Charalampos Tzoulis; Stefan Johansson; Bjørn Ivar Haukanes
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Geir Bredholt; Anette Margrethe Storstein; Monica Haugen
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Eirik Bratland; Ng'weina Francis Magitta; Anette Susanne Bøe Wolff
et al. (2013). Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. (ekstern lenke)
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Aurora Martinez; Per Knappskog; S Olafsdottir
et al. (1995). Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. (ekstern lenke)
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Daniel Eriksson; Frida Dalin; Gabriel Nordling Eriksson
et al. (2018). Cytokine autoantibody screening in the Swedish Addison Registry identifies patients with undiagnosed APS1. (ekstern lenke)
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Henrikke Nilsen Hovland; Rafal Isam Fatoohi Al-Adhami; Sarah Louise Ariansen
et al. (2022). BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories. (ekstern lenke)
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Henrikke Nilsen Hovland; Eunice Kabanyana Mchaina; Hildegunn Høberg Vetti
et al. (2023). Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions. (ekstern lenke)
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J McKinney; Jeffrey Alan Mckinney; Per Knappskog
et al. (2004). Expression and purification of human tryptophan hydroxylase from Escherichia coli and Pichia pastoris. (ekstern lenke)
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Lin Wang; Heidi Erlandsen; Jan Haavik
et al. (2002). Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. (ekstern lenke)
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Ingeborg Brønstad; Anette Susanne Bøe Wolff; Kristian Løvås
et al. (2011). Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease. (ekstern lenke)
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Hans Geir Eiken; Per Knappskog; Jaran Apold
et al. (1996). PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. (ekstern lenke)
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Kristoffer Haugarvoll; Charalampos Tzoulis; Gia Tuong Thi Tran
et al. (2014). Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (ekstern lenke)
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Thea Sjøgren; Eirik Bratland; Ellen Christine Røyrvik
et al. (2022). Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies. (ekstern lenke)
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Johannes Jernqvist Gaare; Gonzalo Sanchez Nido; Pawel Szymon Sztromwasser
et al. (2018). Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. (ekstern lenke)
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R Chehin; Mathias Thorolfsson; Per Knappskog
et al. (1998). Domain structure and stability of human phenylalanin hydroxylase inferred from infrared spectroscopy. (ekstern lenke)
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Yasaman Pakdaman; Monica Sanchez Guixe; Rune Kleppe
et al. (2017). In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. (ekstern lenke)
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Rune Andreassen; Julia Schregel; Alexander Kopatz
et al. (2012). A forensic DNA profiling system for Northern European brown bears (Ursus arctos). (ekstern lenke)
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Omar Hikmat; Charalampos Tzoulis; Per Knappskog
et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (ekstern lenke)
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Anne Grethe Myhre; Asbjørg Stray-Pedersen; E Eide
et al. (2004). Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. (ekstern lenke)
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Jeffrey Alan Mckinney; Banu Turel; Ingeborg Winge
et al. (2009). Functional Properties of Missense Variants of Human Tryptophan Hydroxylase 2. (ekstern lenke)
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Torgeir Flatmark; Bjørg Almås; Per Knappskog
et al. (1999). Tyrosine hydroxylase binds tetrahydrobiopterin cofactor with negative cooperativity as shown by kinetic analysis and surface plasmon resonance detection. (ekstern lenke)
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Eirik Bratland; Geir Bredholt; Gunnar Mellgren
et al. (2009). The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: The major autoantigen in autoimmune Addison's disease. (ekstern lenke)
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Kornelia Neveling; Arjen R. Mensenkamp; Ronny Derks
et al. (2017). BRCA testing by single-molecule molecular inversion probes. (ekstern lenke)
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Yasaman Pakdaman; Siren Berland; Helene J. Bustad
et al. (2021). Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. (ekstern lenke)
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Tetyana Zayats; Lavinia Athanasiu; Ida Elken Sønderby
et al. (2015). Genome-wide analysis of attention deficit hyperactivity disorder in Norway. (ekstern lenke)
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Silje Hjorth Rafaelsen; Helge Ræder; Anne Kristine Fagerheim
et al. (2013). Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. (ekstern lenke)
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Hans Geir Eiken; Per Knappskog; P. Guldberg
et al. (1996). DGGE analysis as a supplement to SSCP analysis of the phenylalanine hydroxylase gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations. (ekstern lenke)
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Peter Daniel Szigetvari; Gopinath Muruganandam; Juha Kallio
et al. (2018). The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity. (ekstern lenke)
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Aril Løge Håvik; Ove Bruland; Dhanushan Dhayalan
et al. (2020). Gamma Knife Radiosurgery does not alter the copy number aberration profile in sporadic vestibular schwannoma. (ekstern lenke)
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Anette Susanne Bøe; G. Bredholt; Per Knappskog
et al. (2004). Pyridoxal phosphatase is a novel cancer autoantigen in the central nervous system. (ekstern lenke)
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T.C. Olsen; Hans Geir Eiken; Per Knappskog
et al. (1996). Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. (ekstern lenke)
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Rune Rose Tronstad; Tatiana Polushina; Hans-Richard Brattbakk
et al. (2018). Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea. (ekstern lenke)
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Hans Geir Eiken; Per Knappskog; H. Boman
et al. (1996). Relative frequency, heterogeneity, and geographic clustering of PKU mutations in Norway. (ekstern lenke)
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Thegna Mavroconstanti; Stefan Johansson; Ingeborg Winge
et al. (2013). Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. (ekstern lenke)
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Ng'weina Francis Magitta; Anette Susanne Bøe Wolff; Stefan Johansson
et al. (2009). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (ekstern lenke)
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Eirik Bratland; Anette Susanne Bøe Wolff; Jan Haavik
et al. (2007). Epitope mapping of human aromatic L-amino acid decarboxylase. (ekstern lenke)
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Åse Bjorvatn Sævik; Anette Susanne Bøe Wolff; Sigridur Björnsdottir
et al. (2021). Potential Transcriptional Biomarkers to Guide Glucocorticoid Replacement in Autoimmune Addison's Disease. (ekstern lenke)
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Torunn Fiskerstrand; Gunnar Houge; Bjørn Ståle Sund
et al. (2010). Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. (ekstern lenke)
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Hans Geir Eiken; Per Knappskog; K. Motzfeldt
et al. (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. (ekstern lenke)
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B. Lüdecke; Per Knappskog; P.T. Clayton
et al. (1996). Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a poin mutation (L205P) in the tyrosine hydroxylase gene. (ekstern lenke)
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Aurora Martinez; Per Knappskog; S Olafsdottir
et al. (1995). Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Isolation and characterization of the wild-type enzyme. (ekstern lenke)
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Dinka Smajlagic; Ksenia Lavrichenko; Siren Berland
et al. (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. (ekstern lenke)
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Tim Berger; Andrea Hasenfus; Cecilie Bredrup
et al. (2024). Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy. (ekstern lenke)
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Hans Geir Eiken; P.M. Knappskog; Kristina Motzeldt
et al. (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. (ekstern lenke)
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Hans Geir Eiken; P.M. Knappskog; H. Boman
et al. (1996). Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway. (ekstern lenke)
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Hildegunn Høberg Vetti; Cathrine Bjorvatn; Bent Fiane
et al. (2016). BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. (ekstern lenke)
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Cecilie Bredrup; Espen Stang; Ove Bruland
et al. (2010). Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. (ekstern lenke)
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