Mutations in the aggrecan gene (ACAN) are associated with multiple epiphyseal dysplasia
Inger Cullman , Outi Mäkitie , Shiro Ikegawa , William Cole
2009
Incontinentia pigmenti. A rare disease with many symptoms
Gerd Holmström , Birgitta Bergendal , Anders Hallén , Suzanne Marcus
Läkartidningen 99 ( 12) 1345
8
2002
Ichthyin Localizes to Keratins and Desmosomes in Epidermis and is Involved in Lipid Metabolism
Anders Vahlquist , Gunilla Westermark , Johanna Dahlqvist , Niklas Dahl
2011
Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family
Shahid Mahmood Baig , Sadia Nawaz , Muhammad Tariq , Aysha Azhar
Journal of the Medical Sciences 27 ( 3) 686 -689
1
2011
Differential expression of RPS19 5’UTR variants implicated in Diamond-Blackfan anemia
Jitendra Badhai , Jens Schuster , Olof Gidlöf , Anne-Sophie Fröjmark
2012
Premature ovarian failure in a mother and a daughter with a balanced translocation t(X;11)(q24;q13.4): Identification of candidate genes
Irina Golovleva , Mahmoud R Mansouri , Birgit Carlsson , Eva-Lena Stattin
2006
Ribosomal protein S19 in erythropoiesis: Reduced response to erythropoietin in mice with a disrupted Rps19 allele
Edward J. Davey , Hans Matsson , Niklas Dahl
2004
A Meniere’s disease gene linked to 12p12.3. Jul 5; 141(5):463-7.
Carina Frykholm , Joakim Klar , Ulla Friberg , Niklas Dahl
American Journal of Medical Genetics - Neuropsychiatric Genetics 141 ( 5)
2006
A Meniere’s disease gene maps to a 463 kb region on chromosome 12p12.3
Carina Frykholm , Joakim Klar , Ulla Friberg , Niklas Dahl
2005
The locus for ichthyosis prematurity syndrome (IPS) is restricted to 231 kb on chromosome 9q34.11
Anders Vahlquist , Joakim Klar , Maritta Pigg , Tobias Gedde-Dahl Jr
2005
Incontinentia pigmenti: En ovanlig sjukdom med många symtom
Gerd Holmström , Birgitta Bergendal , Anders Hallén , Suzanne Marcus
Läkartidningen 12 ( 12) 1345 -1350
2002
High Adenosine Deaminase Level Among Healthy Probands of Diamond Blackfan Anemia (DBA) Cosegregates With the DBA Gene Region on Chromosome 19q13
J.P. Cartron , M. Debré , Niklas Dahl , J.L. Stéphan
Blood 92 ( 11) 4422 -4427
37
1998
Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression
Natalia Draptchinskaia , Thiébaut-Noël Willig , Alfredo Brusco , Irma Dianzani
Blood 94 ( 12) 4294 -4306
177
1999
Candidate gene association study of chronic obstructive pulmonary disorder using a targeted high throughput sequencing approach
Bo Lundbäck , Hans Matsson , Eva Rönmark , Helena Backman
European Respiratory Journal 40 3960
2012
The role of hMLH3 in familial colorectal cancer.
Barbro Werelius , Gudrun Lindmark , Annika Lindblom , Xiao-Lei Zhou
Cancer Research 63 ( 8) 1894 -1899
92
2003
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein
Annalisa Chiocchetti , Luisa Gibello , Adriana Carando , Anna Aspesi
Haematologica 90 ( 11) 1453 -1462
44
2005
Öppen Innovation : En kvalitativ studie om idétransformation inom företag
Niklas Dahl , Katarina Bjuhr
2016
Segmental DNA variations impel the genome evolution. New approaches to the understanding of disease and health
Niklas Dahl
Läkartidningen 107 ( 17) 1138 -1139
2010
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION
Quasar Saleem Padiath , Harshvardhan Rolyan , Pierre Labauge , Alessandro Brussino
ESHG 2014 22 -23
2014
Brachydactyly type A1 associated with unusual radiological findings and a novel mutation in the Indian Hedgehog (IHH) gene
Torsten Lönnerholm , Jens Schuster , Bjarne Linden , Eva-Lena Stattin
2009