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Material Type: Artigo
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The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndromeChen, Chun‐An ; Crutcher, Emeline ; Gill, Harinder ; Nelson, Tanya N. ; Robak, Laurie A. ; Jongmans, Marjolijn C. J. ; Pfundt, Rolph ; Prasad, Chitra ; Berard, Roberta A. ; Fannemel, Madeleine ; Frengen, Eirik ; Misceo, Doriana ; Ramsey, Keri ; Yang, Yaping ; Schaaf, Christian P. ; Wang, XiaHuman mutation, 2020-10, Vol.41 (10), p.1738-1744 [Periódico revisado por pares]United States: Wiley Periodicals IncTexto completo disponível |
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2 |
Material Type: Artigo
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Trichorhinophalangeal syndrome--clinical presentation and geneticsBrodwall, Kristoffer M ; Júlíusson, Pétur B ; Bjerknes, Robert ; Hovland, Randi ; Fiskerstrand, TorunnTidsskrift for den Norske Lægeforening, 2011-08, Vol.131 (15), p.1420-1423 [Periódico revisado por pares]NorwayTexto completo disponível |
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3 |
Material Type: Artigo
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Increased detection of malformations of kidneys and the urinary tractRandby, Hans ; Meberg, Alf ; Yassin, Hussain A G ; Tveit, Line Merete ; Watle, Sara Viksmoen ; Moe, Ole JørgenTidsskrift for den Norske Lægeforening, 2009-10, Vol.129 (19), p.1978-1980 [Periódico revisado por pares]NorwayTexto completo disponível |
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4 |
Material Type: Artigo
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The CHARGE syndromeKlingenberg, Claus ; Andersen, Wenche HeleneTidsskrift for den Norske Lægeforening, 2008-06, Vol.128 (12), p.1401-1405 [Periódico revisado por pares]NorwayTexto completo disponível |
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Material Type: Artigo
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Three statements and three questions about life-prolonging treatmentHetland, Jens GTidsskrift for den Norske Lægeforening, 2007-05, Vol.127 (11), p.1536; author reply 1536-1536; author reply 1536 [Periódico revisado por pares]NorwayTexto completo disponível |
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6 |
Material Type: Artigo
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Life-prolonging treatment--an analysis of two casesFattah, Sabina ; Johnsen, Kathrine Helvig ; Norheim, Ole FrithjofTidsskrift for den Norske Lægeforening, 2007-03, Vol.127 (7), p.878-881 [Periódico revisado por pares]NorwayTexto completo disponível |
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7 |
Material Type: Artigo
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Stickler's syndrome--an underdiagnosed condition?Klingenberg, C ; Fossen, K ; Tranebjaerg, LTidsskrift for den Norske Lægeforening, 2001-11, Vol.121 (27), p.3172-3175 [Periódico revisado por pares]NorwayTexto completo disponível |
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8 |
Material Type: Artigo
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Induced abortion because of fetal abnormality in Norway, 1996-7Eskild, A ; Nesheim, B I ; Berglund, T ; Totlandsdal, J K ; Andresen, J FTidsskrift for den Norske Lægeforening, 2000-03, Vol.120 (9), p.1000-1003 [Periódico revisado por pares]NorwayTexto completo disponível |
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9 |
Material Type: Artigo
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Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor developmentWeidle, B ; Orstavik, K HTidsskrift for den Norske Lægeforening, 1998-04, Vol.118 (10), p.1556-1558 [Periódico revisado por pares]NorwaySem texto completo |
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10 |
Material Type: Artigo
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Choanal atresia--experience with early surgeryHaye, R ; Aanesen, J PTidsskrift for den Norske Lægeforening, 2000-02, Vol.120 (6), p.666-667 [Periódico revisado por pares]NorwayTexto completo disponível |