検索結果 - Houge, Gunnar

Secretary Generals on recent ESHG presidents (2003–2015) 著者: Kääriäinen, Helena, Houge, Gunnar

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Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome 著者: de Leeuw, Nicole, Houge, Gunnar

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The inner life and structure of ESHG 著者: Houge, Gunnar, del Picchia, Jerome

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Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction? 著者: Houge, Gunnar, Lybæk, Helle, Gulati, Sasha

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Reply to Happle 著者: Houge, Gunnar, Hennekam, Raoul C M

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Meningocele following aplasia of the occipital bone 著者: Eggebø, Torbjørn M, Brathetland, Janne, Dirdal, Hege U, Houge, Gunnar

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Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay 著者: Berland, Siren, Haukanes, Bjørn Ivar, Juliusson, Petur Benedikt, Houge, Gunnar

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De novo Huntington disease caused by 26–44 CAG repeat expansion on a low-risk haplotype 著者: Houge, Gunnar, Bruland, Ove, Bjørnevoll, Inga, Hayden, Michael R., Semaka, Alicia

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Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome 著者: Haug, Marte G., Brendehaug, Atle, Houge, Gunnar, Kagami, Masayo, Ogata, Tsutomu

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Fabry or not Fabry – a question of ascertainment 著者: Houge, Gunnar, Tøndel, Camilla, Kaarbøe, Øyvind, Hirth, Asle, Bostad, Leif, Svarstad, Einar

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The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant 著者: Berland, Siren, Jareld, Jørgen, Hickson, Nicholas, Schlecht, Helene, Houge, Gunnar, Douzgou, Sofia

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Usefulness of factor V Leiden mutation testing in clinical practice 著者: Blinkenberg, Ellen Ø, Kristoffersen, Ann-Helen, Sandberg, Sverre, Steen, Vidar M, Houge, Gunnar

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Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature 著者: Stige, Kjersti Eline, Gjerde, Ivar Otto, Houge, Gunnar, Knappskog, Per Morten, Tzoulis, Charalampos

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A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss 著者: Drage Berentsen, Ragnhild, Haukanes, Bjørn I., Júlíusson, Pétur B., Rosendahl, Karen, Houge, Gunnar

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Stepwise ABC system for classification of any type of genetic variant 著者: Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans, den Dunnen, Johan T.

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Identification of a Gene for Renal-Hepatic-Pancreatic Dysplasia by Microarray-Based Homozygosity Mapping 著者: Fiskerstrand, Torunn, Houge, Gunnar, Sund, Staale, Scheie, David, Leh, Sabine, Boman, Helge, Knappskog, Per M.

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Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development 著者: Lybæk, Helle, Meza-Zepeda, Leonardo A, Kresse, Stine H, Høysæter, Trude, Steen, Vidar M, Houge, Gunnar

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Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease 著者: Tøndel, Camilla, Bostad, Leif, Larsen, Kristin Kampevold, Hirth, Asle, Vikse, Bjørn Egil, Houge, Gunnar, Svarstad, Einar

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An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachr... 著者: Lybæk, Helle, ørstavik, Karen Helene, Prescott, Trine, Hovland, Randi, Breilid, Harald, Stansberg, Christine, Steen, Vidar Martin, Houge, Gunnar

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NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant – a case report 著者: McTiernan, Nina, Støve, Svein Isungset, Aukrust, Ingvild, Mårli, Marita Torrisen, Myklebust, Line M., Houge, Gunnar, Arnesen, Thomas

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