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Dougherty, Gerard W
1071  Ergebnisse:
Personensuche X
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1

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/..
 
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2

Motility of efferent duct cilia aids passage of sperm cells..:

Aprea, Isabella ; Nöthe-Menchen, Tabea ; Dougherty, Gerard W...
Molecular Human Reproduction.  27 (2021)  3 - p. , 2021
Link: https://doi.org/10.1093/..
 
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3

The centrosomal/basal body protein OFD1 is required for mic..:

Alfieri, Mariaevelina ; Iaconis, Daniela ; Tammaro, Roberta...
Tissue and Cell.  64 (2020)  - p. 101369 , 2020
Link: https://doi.org/10.1016/..
 
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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/..
 
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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/..
 
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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/..
 
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7

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskines..:

Paff, Tamara ; Loges, Niki T. ; Aprea, Isabella...
The American Journal of Human Genetics.  100 (2017)  1 - p. 160-168 , 2017
Link: https://doi.org/10.1016/..
 
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8

Mutation ofserine/threonine protein kinase 36(STK36) causes..:

Edelbusch, Christine ; Cindrić, Sandra ; Dougherty, Gerard W....
Human Mutation.  38 (2017)  8 - p. 964-969 , 2017
Link: https://doi.org/10.1002/..
 
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9

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/..
 
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10

Systematic Analysis ofCCNOVariants in a Defined Population:..:

Amirav, Israel ; Wallmeier, Julia ; Loges, Niki T....
Human Mutation.  37 (2016)  4 - p. 396-405 , 2016
Link: https://doi.org/10.1002/..
 
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11

Ciliary function and motor protein composition of human fal..:

Raidt, Johanna ; Werner, Claudius ; Menchen, Tabea...
Human Reproduction.  30 (2015)  12 - p. 2871-2880 , 2015
Link: https://doi.org/10.1093/..
 
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12

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/..
 
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13

Mutations in CCNO result in congenital mucociliary clearanc..:

Wallmeier, Julia ; Al-Mutairi, Dalal A ; Chen, Chun-Ting...
Nature Genetics.  46 (2014)  6 - p. 646-651 , 2014
Link: https://doi.org/10.1038/..
 
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14

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/..
 
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15

Myosin IIIa boosts elongation of stereocilia by transportin..:

Salles, Felipe T. ; Merritt Jr, Raymond C. ; Manor, Uri...
Nature Cell Biology.  11 (2009)  4 - p. 443-450 , 2009
Link: https://doi.org/10.1038/..
 
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