MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation patte... von Nielsen, J B, Henriksen, K F, Hansen, C, Silahtaroglu, A, Schwartz, M, Tommerup, N

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Molecular Analysis of Phenylketonuria in Denmark: 99% of the Mutations Detected by Denaturing Gradient Gel Electrophoresis von Guldberg, Per, Henriksen, Karen Friis, Güttler, Flemming

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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B von Halgren, C, Kjaergaard, S, Bak, M, Hansen, C, El-Schich, Z, Anderson, CM, Henriksen, KF, Hjalgrim, H, Kirchhoff, M, Bijlsma, EK, Nielsen, M, den Hollander, NS, Ruivenkamp, CAL, Isidor, B, Le Caignec, C, Zannolli, R, Mucciolo, M, Renieri, A, Mari, F, Anderlid, B-M, Andrieux, J, Dieux, A, Tommerup, N, Bache, I

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Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation von Gilling, Mette, Lind-Thomsen, Allan, Mang, Yuan, Bak, Mads, Møller, Morten, Ullmann, Reinhard, Kristoffersson, Ulf, Kalscheuer, Vera M, Henriksen, Karen Friis, Bugge, Merete, Tümer, Zeynep, Tommerup, Niels

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A 3.2Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia von GILLING, Mette, LAURITSEN, Marlene Briciet, ROSENBERG, Thomas, BRØNDUM-NIELSEN, Karen, COTTERILL, Rodney M. J, LUNDSTEEN, Claes, ROJERS, Hans-Hilger, ULLMANN, Reinhard, BACHE, Iben, TÜMER, Zeynep, TOMMERUP, Niels, MØLLER, Morten, HENRIKSEN, Karen Friis, VICENTE, Astrid, OLIVEIRA, Guiomar, CINTIN, Christina, EIBERG, Hans, ANDERSEN, Paal Skyt, MORS, Ole

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Identification of novel genes regulated in the developing human ventral mesencephalon von Jørgensen, Jesper Roland, Juliusson, Bengt, Henriksen, Karen Friis, Hansen, Claus, Knudsen, Steen, Petersen, Thomas Nordahl, Blom, Nikolaj, Seiger, Åke, Wahlberg, Lars U.

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Good Clinical Practice is now Obligatory in Academic Clinical Drug Research in the European Union von Jørgensen, Annette, Bach, Karin Friis, Friis, Karen

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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia von Gilling, Mette, Lauritsen, Marlene Briciet, Møller, Morten, Henriksen, Karen Friis, Vicente, Astrid, Oliveira, Guiomar, Cintin, Christina, Eiberg, Hans, Andersen, Paal Skyt, Mors, Ole, Rosenberg, Thomas, Brøndum-Nielsen, Karen, Cotterill, Rodney M J, Lundsteen, Claes, Ropers, Hans-Hilger, Ullmann, Reinhard, Bache, Iben, Tümer, Zeynep, Tommerup, Niels

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Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland von Guldberg, P, Henriksen, K F, Sipilä, I, Güttler, F, de la Chapelle, A

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A Molecular Survey of Phenylketonuria in Iceland: Identification of a Founding Mutation and Evidence of Predominant Norse Settlement von Guldberg, Per, Zschocke, Johannes, Dagbjartsson, Atli, Henriksen, Karen Friis, Güttler, Flemming

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Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients von Bak, Mads, Hansen, Claus, Henriksen, Karen Friis, Hansen, Lars, Pakkenberg, Henning, Eiberg, Hans, Tommerup, Niels

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Microdissection – a precise method to disclose the parental origin of supernumerary marker chromosomes von Friedrich, Ursula, Bugge, Merete, Houman, Mette, Friis Henriksen, Karen, Brøndum-Nielsen, Karen

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HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg von Kjaer, Klaus Wilbrandt, Hedeboe, Jess, Bugge, Merete, Hansen, Claus, Friis-Henriksen, Karen, Vestergaard, Maria Baeksted, Tommerup, Niels, Opitz, John M.

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Molecular Heterogeneity of Nonphenylketonuria Hyperphenylalaninemia in 25 Danish Patients von Guldberg, Per, Henriksen, Karen Friis, Thöny, Beat, Blau, Nenad, Güttler, Flemining

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Phenylalanine hydroxylase deficiency in a population in Germany: Mutational profile and nine novel mutations von Guldberg, Per, Mallmann, Rudolf, Henriksen, Karen Friis, Güttler, Flemming

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Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling von Guldberg, P, Levy, H L, Henriksen, K F, Guttler, F

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PCR-based screening of YAC clones without DNA extraction von Hansen, Claus, Henriksen, Karen Friis, Rendtorff, Nanna Dahl, Moestrup, Soren Kragh, Tommerup, Niels

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Molecular basis for nonphenylketonuria hyperphenylalaninemia von Economou-Petersen, Effrosini, Henriksen, Karen Friis, Guldberg, Per, Güttler, Flemming

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The codon 408 mutation associated with haplotype 2 is predominant in polish families with phenylketonuria von JARUZELSKA, J, HENRIKSEN, K. F, GUÊTTLER, F, RIESS, O, BORSKI, K, BLIN, N, SLOMSKI, R

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αα-hub coregulator structure and flexibility determine transcription factor binding and selection in regulatory interactomes von Friis Theisen, Frederik, Salladini, Edoardo, Davidsen, Rikke, Jo Rasmussen, Christina, Staby, Lasse, Kragelund, Birthe B., Skriver, Karen

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