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Zeineb Bakey

*born* 1982

*BiographicalDetails*
tätig an der Universität Pierre und Marie Curie Paris

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1

Cleavage of periostin by MMP9 protects mice from kidney cystic disease

Djaziri, Nabila (Verfasser)

Freiburg : Universität, 2024

*eBook*

2

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

Bakey, Zeineb (Verfasser)

Freiburg : Universität, 2023

*eBook*

3

A homozygous human WNT11 variant is associated with laterality, heart and renal defects

Berns, Henrike (Verfasser)

Freiburg : Universität, 2025

*eBook*

4

A 57 kB genomic deletion causing CTNS loss of function contributes to the CTNS mutational spectrum in the Middle East

Najafi, Maryam (Verfasser)

Freiburg : Universität, 2019

*eBook*

5

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Rad, Abolfazl (Verfasser)

Freiburg : Universität, 2019

*eBook*

6

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Loges, Niki Tomas (Verfasser)

Freiburg : Universität, 2020

*eBook*

7

Parental whole-exome sequencing enables Sialidosis type II diagnosis due to an NEU1 missense mutation as an underlying cause of Nephrotic syndrome in the child

Maroofian, Reza (Verfasser)

Freiburg : Universität, 2023

*eBook*

8

Spectrum of genetic variants in a cohort of 37 laterality defect cases

Antony, Dinu (Verfasser)

Freiburg : Universität, 2022

*eBook*

9

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Rehman, Atteeq U. (Verfasser)

Freiburg : Universität, 2019

*eBook*

10

Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects

Matter, Anja (Verfasser)

Freiburg : Universität, 2024

*eBook*

11

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Riedhammer, Korbinian M. (Verfasser)

Freiburg : Universität, 2024

*eBook*