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List of works by Rim Hjeij

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

scientific article

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

scientific article

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

article

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

scientific article published on 3 September 2014

DYX1C1 is required for axonemal dynein assembly and ciliary motility

scientific article

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151.

scientific article published on 13 July 2015

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

article

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

scientific article published on 19 March 2015

Immunofluorescence microscopy (IFM) analysis of primary ciliary dyskinesia (PCD) patients with suspected inner dynein arm defects (IDA)

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.

scientific article published on March 2015

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

scientific article published on 19 September 2013

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

scientific article

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