E-LIB Suche - Ergebnisse für: Beales, Philip L.

1

Ciliopathies: Their Role in Pediatric Kidney Disease:

, In: Pediatric Kidney Disease,

Schmidts, Miriam ; Beales, Philip L. - p. 289-315 , 2023

Link: https://doi.org/10.1007/..

2

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/..

3

De-Suppression of Mesenchymal Cell Identities and Variable ..:

Freke, Grace Mercedes ; Martins, Tiago ; Davies, Rosalind Jane...
Cells. 12 (2023) 22 - p. 2662 , 2023

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

4

Quality of life improvements following one year of setmelan..:

Forsythe, Elizabeth ; Haws, Robert M. ; Argente, Jesús...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

5

Modelling renal defects in Bardet-Biedl syndrome patients u..:

Williams, James ; Hurling, Chloe ; Munir, Sabrina...
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

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

6

eP275: Quality of life in patients with Bardet-Biedl syndro..:

Forsythe, Elizabeth ; Haws, Robert ; Argente, Jesus...
Genetics in Medicine. 24 (2022) 3 - p. S173-S174 , 2022

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

7

ODP606 Long-term Efficacy of Setmelanotide in Patients With..:

Argente, Jesús ; Beales, Philip ; Clément, Karine...
Journal of the Endocrine Society. 6 (2022) Supplement_1 - p. A14-A14 , 2022

Link: https://doi.org/10.1210/..

8

Dental Anomalies in Ciliopathies: Lessons from Patients wit..:

Kantaputra, Piranit ; Dejkhamron, Prapai ; Sittiwangkul, Rekwan...
Genes. 14 (2022) 1 - p. 84 , 2022

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

9

Higher throughput drug screening for rare respiratory disea..:

Lee, Dani Do Hyang ; Cardinale, Daniela ; Nigro, Ersilia...
European Respiratory Journal. 58 (2021) 4 - p. 2000455 , 2021

Link: https://doi.org/10.1183/..

10

Polycystin-2 Is Required for Chondrocyte Mechanotransductio..:

Thompson, Clare L. ; McFie, Megan ; Chapple, J. Paul..
International Journal of Molecular Sciences. 22 (2021) 9 - p. 4313 , 2021

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

11

Induction of Neural Crest Stem Cells From Bardet–Biedl Synd..:

Barrell, William B. ; Griffin, John N. ; Harvey, Jessica-Lily...
Frontiers in Molecular Neuroscience. 12 (2019) - p. , 2019

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

12

Correction: Loss of Bardet-Biedl syndrome proteins causes s..:

Haq, Naila ; Schmidt-Hieber, Christoph ; Sialana, Fernando J....
PLOS Biology. 17 (2019) 10 - p. e3000520 , 2019

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

13

Novel missense variants in the RNF213 gene from a European ..:

Gagunashvili, Andrey N. ; Ocaka, Louise ; Kelberman, Daniel...
Human Genome Variation. 6 (2019) 1 - p. , 2019

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

14

Loss of Bardet-Biedl syndrome proteins causes synaptic aber..:

Haq, Naila ; Schmidt-Hieber, Christoph ; Sialana, Fernando J....
PLOS Biology. 17 (2019) 9 - p. e3000414 , 2019

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

15

The KOUNCIL Consortium: From Genetic Defects to Therapeutic..:

Renkema, Kirsten Y. ; Giles, Rachel H. ; Lilien, Marc R....
Frontiers in Pediatrics. 6 (2018) - p. , 2018

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