E-LIB Suche - Ergebnisse für: van der Ven, Amelie T

1

Expanding the phenotypic and biochemical spectrum of NDUFAF..:

van der Ven, Amelie T. ; Cabrera-Orefice, Alfredo ; Wente, Isabell...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107675 , 2023

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

2

A homozygous truncating ETV4 variant in a Nigerian family w..:

Kolvenbach, Caroline M. ; Zheng, Bixia ; Merz, Lea M....
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1355-1359 , 2023

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

3

Copy Number Variation Analysis Facilitates Identification o..:

Wu, Chen-Han Wilfred ; Lim, Tze Y. ; Wang, Chunyan...
European Urology Open Science. 44 (2022) - p. 106-112 , 2022

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

4

Prevalence and clinical prediction of mitochondrial disorde..:

van der Ven, Amelie T. ; Johannsen, Jessika ; Kortüm, Fanny...
Clinical Genetics. 100 (2021) 6 - p. 766-770 , 2021

Link: https://doi.org/10.1111/..

5

Exome survey of individuals affected by VATER/VACTERL with ..:

Kolvenbach, Caroline M. ; van der Ven, Amelie T. ; Kause, Franziska...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3784-3792 , 2021

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

6

A homozygous missense variant in VWA2, encoding an interact..:

van der Ven, Amelie T. ; Kobbe, Birgit ; Kohl, Stefan...
PLOS ONE. 13 (2018) 1 - p. e0191224 , 2018

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

7

Mutations in six nephrosis genes delineate a pathogenic pat..:

Ashraf, Shazia ; Kudo, Hiroki ; Rao, Jia...
Nature Communications. 9 (2018) 1 - p. , 2018

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

8

Panel sequencing distinguishes monogenic forms of nephritis..:

Schapiro, David ; Daga, Ankana ; Lawson, Jennifer A...
Nephrology Dialysis Transplantation. 34 (2018) 3 - p. 474-485 , 2018

Link: https://doi.org/10.1093/..

9

Exome sequencing in Jewish and Arab patients with rhabdomyo..:

Vivante, Asaf ; Ityel, Hadas ; Pode-Shakked, Ben...
Pediatric Nephrology. 32 (2017) 12 - p. 2273-2282 , 2017

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

10

A homozygous truncating ETV4 variant in a Nigerian family w..:

Kolvenbach, Caroline M ; Zheng, Bixia ; Merz, Lea M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081948/. , 2023

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

11

Copy Number Variation Analysis Facilitates Identification o..:

Wu, Chen-Han Wilfred ; Lim, Tze Y ; Wang, Chunyan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9520493/. , 2022

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

12

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syn..:

Mann, Nina ; Mzoughi, Slim ; Schneider, Ronen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7920168/. , 2021

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

13

Impaired complex I repair causes recessive Leber's heredita..:

Stenton, Sarah L ; Sheremet, Natalia L ; Catarino, Claudia B...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7954600/. , 2021

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

14

Impaired complex I repair causes recessive Leber's heredita..:

Stenton, Sarah L ; Sheremet, Natalia L ; Catarino, Claudia B...
info:eu-repo/semantics/altIdentifier/pmid/33465056. , 2021

Link: http://hdl.handle.net/24..

15

Exome survey of individuals affected by VATER/VACTERL with ..:

Kolvenbach, Caroline M ; van der Ven, Amelie T ; Kause, Franziska...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595524/. , 2021

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