Clinical segmentation in 22q11.2 deletion syndrome: Cognitive impairments and additional genetic load
Schmock, H., Stevenson, Matt P., Hanebaum, S., Vangkilde, A., Rosengren, A., Weinsheimer, S.M., Skovby, F., Olesen, C., Ullum, H., Baaré, W.F.C., Siebner, H.R., Didriksen, M., Werge, T., Olsen, L., Jepsen, J.R.M.
Published in Journal of psychiatric research (01.09.2024)
Published in Journal of psychiatric research (01.09.2024)
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Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor
Ejerskov, C., Farholt, S., Skovby, F., Vestergaard, E.M., Haagerup, A.
Published in Clinical genetics (01.03.2016)
Published in Clinical genetics (01.03.2016)
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Journal Article
Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties
Callum, P., Messiaen, L.M., Bower, P.V., Skovby, F., Iger, J., Timshel, S., Sims, C.A., Falk, R.E.
Published in Human reproduction (Oxford) (01.04.2012)
Published in Human reproduction (Oxford) (01.04.2012)
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Journal Article
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
Vega, H, Trainer, A H, Gordillo, M, Crosier, M, Kayserili, H, Skovby, F, Uzielli, M L Giovannucci, Schnur, R E, Manouvrier, S, Blair, E, Hurst, J A, Forzano, F, Meins, M, Simola, K O J, Raas-Rothschild, A, Hennekam, R C M, Jabs, E Wang
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype
Lund, AM, Joensen, F, Christensen, E, Dunø, M, Skovby, F, Schwartz, M
Published in Clinical genetics (01.01.2008)
Published in Clinical genetics (01.01.2008)
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Journal Article
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands
Lund, A. M, Joensen, F, Hougaard, D. M, Jensen, L. K, Christensen, E, Christensen, M, Nørgaard-Petersen, B, Schwartz, M, Skovby, F
Published in Journal of inherited metabolic disease (01.06.2007)
Published in Journal of inherited metabolic disease (01.06.2007)
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Journal Article
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase
Christensen, M., Duno, M., Lund, A. M., Skovby, F., Christensen, E.
Published in Journal of inherited metabolic disease (01.04.2007)
Published in Journal of inherited metabolic disease (01.04.2007)
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Journal Article
Causality of myelodysplasia and acute myeloid leukemia and their genetic abnormalities
PEDERSEN-BJERGAARD, J, CHRISTIANSEN, D. H, ANDERSEN, M. K, SKOVBY, F
Published in Leukemia (01.11.2002)
Published in Leukemia (01.11.2002)
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Journal Article
Neonatal Screening for Galactosemia by Quantitative Analysis of Hexose Monophosphates Using Tandem Mass Spectrometry: A Retrospective Study
Jensen, Ulrich Glumer, Brandt, Niels Jacob, Christensen, Ernst, Skovby, Flemming, Norgaard-Pedersen, Bent, Simonsen, Henrik
Published in Clinical chemistry (Baltimore, Md.) (01.08.2001)
Published in Clinical chemistry (Baltimore, Md.) (01.08.2001)
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Journal Article
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder
Gootjes, J, Skovby, F, Christensen, E, Wanders, R J A, Ferdinandusse, S
Published in Neurology (08.06.2004)
Published in Neurology (08.06.2004)
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Journal Article
Anthropometry of patients with osteogenesis imperfecta
Lund, Allan M, Müller, Jørn, Skovby, Flemming
Published in Archives of disease in childhood (01.06.1999)
Published in Archives of disease in childhood (01.06.1999)
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Journal Article
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG
Aebi, M, Helenius, A, Schenk, B, Barone, R, Fiumara, A, Berger, Eg, Hennet, T, Imbach, T, Stutz, A, Bjursell, C, Uller, A, Wahlström, Jg, Briones, P, Cardo, E, Clayton, P, Winchester, B, Cormier-dalre, V, de Lonlay, P, Cuer, M, Dupré, T, Seta, N, de Koning, T, Dorland, L, de Loos, F, Kupers, L, Fabritz, L, Hasilik, M, Marquardt, T, Niehues, R, Freeze, H, Grünewald, S, Heykants, L, Jaeken, J, Matthijs, G, Schollen, E, Xkeir, G Keir, Kjaergaard, S, Schwartz, M, Skovby, F, Klein, A, Roussel, P, Körner, C, Lübke, T, Thiel, C, von Figura, K, Koscielak, J, Krasnewich, D, Lehle, L, Peters, V, Raab, M, Saether, O, Schachter, H, Van Schaftingen, E, Verbert, A, Vilaseca, A, Wevers, R, Yamashita, K
Published in Glycoconjugate journal (01.11.1999)
Published in Glycoconjugate journal (01.11.1999)
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Journal Article
Collagen-derived markers of bone metabolism in osteogenesis imperfecta
Lund, AM, Hansen, M, Kollerup, G, Juul, A, Teisner, B, Skovby, F
Published in Acta Paediatrica (01.11.1998)
Published in Acta Paediatrica (01.11.1998)
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Journal Article
The natural history of homocystinura due to cystathionine β-synthase deficiency
MUDD, S. H, SKOVBY, F, FOWLER, B, GROBE, H, SCHMIDT, H, SCHWEITZER, L, LEVY, H. L, PETTIGREW, K. D, WILCKEN, B, PYERITZ, R. E, ANDRIA, G, BOERS, G. H. J, BROMBERG, I. L, CERONE, R
Published in American journal of human genetics (1985)
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Published in American journal of human genetics (1985)
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