List of works - Niklas Dahl

A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe x-linked charcot-marie-tooth disease ⬇️

scientific article published on 01 January 1998

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

scientific article published on 09 August 2020

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

scientific article published on 08 January 2020

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

scientific article published on 12 July 2018

Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation ⬇️

scientific article published on September 1, 1997

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb ⬇️

scientific article (publication date: August 1997)

Evidence for Digenic Inheritance of Nonsyndromic Hereditary Hearing Loss in a Swedish Family ⬇️

scientific article published on September 1, 1998

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome ⬇️

scientific article published on March 30, 2011

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association ⬇️

scientific article published on October 7, 2010

Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease ⬇️

scientific article published on July 8, 2011

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

scientific article published on 6 December 2017

Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity ⬇️

scientific article published on November 1, 1998

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome ⬇️

scientific article published on April 1, 1995

Malignant Osteopetrosis: c-src kinase is not reduced in fibroblasts ⬇️

scientific article published on 01 July 1993

Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction ⬇️

scientific article published on 01 July 1997

Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus ⬇️

scientific article published on August 1, 1995

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

scientific article published on 24 May 2019

Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22 ⬇️