E-LIB Suche - Ergebnisse für: Hjeij, Rim

1

Biallelic Variants in MNS1 Are Associated with Laterality D..:

Hjeij, Rim ; Leslie, Joseph ; Rizk, Hoda...
Cells. 13 (2024) 12 - p. 1017 , 2024

Link: https://doi.org/10.3390/..

2

Pathogenic variants in CLXN encoding the outer dynein arm d..:

Hjeij, Rim ; Aprea, Isabella ; Poeta, Marco...
Genetics in Medicine. 25 (2023) 5 - p. 100798 , 2023

Link: https://doi.org/10.1016/..

3

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S. ; Hjeij, Rim ; Vivante, Asaf...
Genetics in Medicine. 24 (2022) 11 - p. 2249-2261 , 2022

Link: https://doi.org/10.1016/..

4

CFAP45 deficiency causes situs abnormalities and asthenospe..:

Dougherty, Gerard W. ; Mizuno, Katsutoshi ; Nöthe-Menchen, Tabea...
Nature Communications. 11 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

5

CiliaCarta: An integrated and validated compendium of cilia..:

van Dam, Teunis J. P. ; Kennedy, Julie ; van der Lee, Robin...
PLOS ONE. 14 (2019) 5 - p. e0216705 , 2019

Link: https://doi.org/10.1371/..

6

Homozygous loss-of-function mutations in MNS1 cause lateral..:

Ta-Shma, Asaf ; Hjeij, Rim ; Perles, Zeev...
PLOS Genetics. 14 (2018) 8 - p. e1007602 , 2018

Link: https://doi.org/10.1371/..

7

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality..:

Loges, Niki T. ; Antony, Dinu ; Maver, Ales...
The American Journal of Human Genetics. 103 (2018) 6 - p. 995-1008 , 2018

Link: https://doi.org/10.1016/..

8

TTC25 Deficiency Results in Defects of the Outer Dynein Arm..:

Wallmeier, Julia ; Shiratori, Hidetaka ; Dougherty, Gerard W....
The American Journal of Human Genetics. 99 (2016) 2 - p. 460-469 , 2016

Link: https://doi.org/10.1016/..

9

Mutations in CCDC11, which Encodes a Coiled-Coil Containing..:

Narasimhan, Vijayashankaranarayanan ; Hjeij, Rim ; Vij, Shubha...
Human Mutation. 36 (2015) 3 - p. 307-318 , 2015

Link: https://doi.org/10.1002/..

10

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disru..:

Hjeij, Rim ; Onoufriadis, Alexandros ; Watson, Christopher M....
The American Journal of Human Genetics. 95 (2014) 3 - p. 257-274 , 2014

Link: https://doi.org/10.1016/..

11

DYX1C1 is required for axonemal dynein assembly and ciliary..:

UK10K ; Tarkar, Aarti ; Loges, Niki T...
Nature Genetics. 45 (2013) 9 - p. 995-1003 , 2013

Link: https://doi.org/10.1038/..

12

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskine..:

Biebach, Luisa ; Cindrić, Sandra ; Koenig, Julia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9447143/. , 2022

Link: http://www.ncbi.nlm.nih...

13

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S ; Hjeij, Rim ; Vivante, Asaf...
https://pure.au.dk/portal/en/publications/7b4a9a5f-60ea-4e3a-8fe5-6f943101cb02. , 2022

Link: https://pure.au.dk/porta..

14

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S ; Hjeij, Rim ; Vivante, Asaf...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10584193/. , 2022

Link: http://www.ncbi.nlm.nih...

15

CFAP45 deficiency causes situs abnormalities and asthenospe..:

Dougherty, Gerard W ; Mizuno, Katsutoshi ; Nöthe-Menchen, Tabea...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7606486/. , 2020

Link: http://www.ncbi.nlm.nih...