E-LIB Suche - Ergebnisse für: Schmidts, Miriam

1

Emerging principles of primary cilia dynamics in controllin..:

Gopalakrishnan, Jay ; Feistel, Kerstin ; Friedrich, Benjamin M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620770/. , 2023

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

2

Genetic studies of paired metabolomes reveal enzymatic and ..:

Schlosser, Pascal ; Scherer, Nora ; Grundner-Culemann, Franziska...
https://boris.unibe.ch/183193/. , 2023

Link: https://boris.unibe.ch/1..

3

Riboflavin 1 transporter deficiency : novel SLC52A1 variant..:

Grünert, Sarah ; Ziagaki, Athanasia ; Heinen, André...
https://freidok.uni-freiburg.de/data/238007. , 2023

Link: https://freidok.uni-frei..

4

Emerging principles of primary cilia dynamics in controllin..:

Gopalakrishnan, Jay ; Feistel, Kerstin ; Friedrich, Benjamin M...
https://freidok.uni-freiburg.de/data/241614. , 2023

Link: https://freidok.uni-frei..

5

Implication of FOXD2 dysfunction in syndromic congenital an..:

Riedhammer, Korbinian M ; Nguyen, Thanh-Minh T ; Koşukcu, Can...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055578/. , 2023

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

6

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...

7

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

Bakey, Zeineb ; Cabrera, Oscar A ; Hoefele, Julia...
https://discovery.ucl.ac.uk/id/eprint/10172460/1/Beales_IFT74%20variants%20cause%20skeletal%20ciliopathy%20and%20motile%20cilia%20defects%20in%20mice%20and%20humans_AOP.pdf. , 2023

Link: https://discovery.ucl.ac..

8

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

Bakey, Zeineb ; Cabrera, Oscar A ; Hoefele, Julia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9980244/. , 2023

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

9

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

Bakey, Zeineb ; Cabrera, Oscar A ; Antony, Dinu...
https://freidok.uni-freiburg.de/data/237270. , 2023

Link: https://freidok.uni-frei..

10

Genetic studies of paired metabolomes reveal enzymatic and ..:

Schlosser, Pascal ; Scherer, Nora ; Grundner-Culemann, Franziska...
freidok.uni-freiburg.de/data/237115. , 2023

Link: https://nbn-resolving.or..

11

Genetic studies of paired metabolomes reveal enzymatic and ..:

Schlosser, Pascal ; Scherer, Nora ; Grundner-Culemann, Franziska...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10260405/. , 2023

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

12

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, Rauan ; Rad, Aboulfazl ; Lin, Sheng-Jia...
https://discovery.ucl.ac.uk/id/eprint/10181376/1/awad380-2.pdf. , 2023

Link: https://discovery.ucl.ac..

13

Identification of three novel homozygous variants in COL9A3..:

Rad, Aboulfazl ; Najafi, Maryam ; Suri, Fatemeh...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8892745/. , 2022

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

14

A recurrent homozygous missense DPM3 variant leads to muscl..:

Nagy, Sara ; Lau, Tracy ; Alavi, Shahryar...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9633384/. , 2022

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

15

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

Antony, Dinu ; Gulec Yilmaz, Elif ; Gezdirici, Alper...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9083912/. , 2022

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