Concepedia
Statistics
Publications
190
Citations
14.3K
H-Index
62
Active since
1988
Affiliations
Uppsala University(Current)
Uppsala University Hospital
Science for Life Laboratory
Karolinska Institutet
Karolinska University Hospital
Niklas Dahl is an author at Uppsala University specializing in genetics, life sciences, and molecular genetics.
Publications per year
1988–2022
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
Sandra Strautnieks, Laura N. Bull, Alexander S. Knisely et al. · Nature Genetics · 1998 · 999 citations
Medicine, Genetics, Molecular Genetics +13
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Natalia Draptchinskaia, Peter Gustavsson, Björn Andersson et al. · Nature Genetics · 1999 · 788 citations
Life Sciences, Genetics, Molecular Genetics +5
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
Jocelyn Laporte, Ling Hu, Christine Kretz et al. · Nature Genetics · 1996 · 626 citations
Life Sciences, Genetics, Molecular Genetics +9
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Christoph Klein, Magda Grudzien, Giridharan Appaswamy et al. · Nature Genetics · 2006 · 504 citations
Life Sciences, Genetics, Molecular Genetics +10
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
Adrianna Vlachos, Sarah E. Ball, Niklas Dahl et al. · British Journal of Haematology · 2008 · 473 citations · Full text
Life Sciences, Genetics, Hematology +17
1–5 of 190