E-LIB Suche - Ergebnisse für: Bakey, Zeineb

1

Implication of transcription factor FOXD2 dysfunction in sy..:

Riedhammer, Korbinian M. ; Nguyen, Thanh-Minh T. ; Koşukcu, Can...
Kidney International. 105 (2024) 4 - p. 844-864 , 2024

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

2

Cleavage of periostin by MMP9 protects mice from kidney cys..:

Djaziri, Nabila ; Burel, Cindy ; Abbad, Lilia...
PLOS ONE. 18 (2023) 12 - p. e0294922 , 2023

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

3

IFT74 variants cause skeletal ciliopathy and motile cilia d..:

Bakey, Zeineb ; Cabrera, Oscar A. ; Hoefele, Julia...
PLOS Genetics. 19 (2023) 6 - p. e1010796 , 2023

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

4

Spectrum of Genetic Variants in a Cohort of 37 Laterality D..:

Antony, Dinu ; Gulec Yilmaz, Elif ; Gezdirici, Alper...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

5

Cover Image, Volume 40, Issue 3:

Rehman, Atteeq U. ; Najafi, Maryam ; Kambouris, Marios...
Human Mutation. 40 (2019) 3 - p. i-i , 2019

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

6

Mimicry and well known genetic friends: molecular diagnosis..:

Najafi, Maryam ; Kordi-Tamandani, Dor Mohammad ; Behjati, Farkhondeh...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

7

A 57 kB Genomic Deletion Causing CTNS Loss of Function Cont..:

Najafi, Maryam ; Tamandani, Dor Mohammad Kordi ; Azarfar, Anoush...
Frontiers in Pediatrics. 7 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

8

Cellular ciliary phenotyping indicates pathogenicity of nov..:

Oud, Machteld M. ; Latour, Brooke L. ; Bakey, Zeineb...
Cilia. 7 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

9

Biallelic loss of function variants inPPP1R21cause a neurod..:

Rehman, Atteeq U. ; Najafi, Maryam ; Kambouris, Marios...
Human Mutation. , 2018

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

10

Parental Whole-Exome Sequencing Enables Sialidosis Type II ..:

Maroofian, Reza ; Schuele, Isabel ; Najafi, Maryam...
Kidney International Reports. 3 (2018) 6 - p. 1454-1463 , 2018

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

11

Primary cilia‐regulated transcriptome in the renal collecti..:

Mohammed, Sami G. ; Arjona, Francisco J. ; Verschuren, Eric H. J....
The FASEB Journal. 32 (2018) 7 - p. 3653-3668 , 2018

Link: https://doi.org/10.1096/..

12

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/..

13

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/..

14

ANKS3 Co-Localises with ANKS6 in Mouse Renal Cilia and Is A..:

Delestré, Laure ; Bakey, Zeineb ; Prado, Cécilia...
PLOS ONE. 10 (2015) 9 - p. e0136781 , 2015

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

15

IFT74 variants cause skeletal ciliopathy and motile cilia d..:

Bakey, Zeineb ; Cabrera, Oscar A ; Hoefele, Julia...
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/108132. , 2023

Link: https://opus.bibliothek...