E-LIB Suche - Ergebnisse für: Schierbaum, Luca M.

1

Exome sequencing identifies a likely causative variant in 5..:

Deutsch, Konstantin ; Klämbt, Verena ; Kitzler, Thomas M....
Genes & Diseases. 11 (2024) 5 - p. 101111 , 2024

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

2

Genome-Wide Survey for Microdeletions or -Duplications in 1..:

Schierbaum, Luca M. ; Schneider, Sophia ; Herms, Stefan...
Genes. 12 (2021) 9 - p. 1449 , 2021

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

3

Genome-Wide Survey for Microdeletions or -Duplications in 1..:

Schierbaum, Luca M ; Schneider, Sophia ; Herms, Stefan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8468665/. , 2021

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

4

Genome-Wide Survey for Microdeletions or -Duplications in 1..:

Schierbaum, Luca M ; Schneider, Sophia ; Herms, Stefan...
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/17319. , 2021

Link: https://opus4.kobv.de/op..

5

Expanding the spectrum of novel candidate genes using trio ..:

Schneider, Ronen ; Shril, Shirlee ; Buerger, Florian...
Genes & Diseases. , 2024

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

6

Bi-allelic variants in RINT1 present as early-onset pure he..:

Quiroz, Vicente ; Planas-Serra, Laura ; Sveden, Abigail...
Journal of Clinical Investigation. , 2024

Link: https://doi.org/10.1172/..

7

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/..

8

Recessive CHRM5 variant as a potential cause of neurogenic ..:

Schneider, Sophia ; Schierbaum, Luca ; Burger, Wessel A. C....
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2083-2091 , 2023

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

9

X-linked variations inSHROOM4are implicated in congenital a..:

Kolvenbach, Caroline M ; Felger, Tim ; Schierbaum, Luca...
Journal of Medical Genetics. 60 (2022) 6 - p. 587-596 , 2022

Link: https://doi.org/10.1136/..

10

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/..

11

Whole exome sequencing identifies potential candidate genes..:

Wang, Chunyan ; Seltzsam, Steve ; Zheng, Bixia...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1355-1367 , 2022

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

12

Genome-wide association study in patients with posterior ur..:

van der Zanden, Loes F. M. ; Maj, Carlo ; Borisov, Oleg...
Frontiers in Pediatrics. 10 (2022) - p. , 2022

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

13

Genome-wide identification of disease-causing copy number v..:

Fabian, Julia ; Dworschak, Gabriel C. ; Waffenschmidt, Lea...
European Journal of Human Genetics. 31 (2022) 1 - p. 105-111 , 2022

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

14

Reverse phenotyping facilitates disease allele calling in e..:

Seltzsam, Steve ; Wang, Chunyan ; Zheng, Bixia...
Genetics in Medicine. 24 (2022) 2 - p. 307-318 , 2022

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

15

A truncating NRIP1 variant in an Arabic family with congeni..:

Zheng, Bixia ; Wang, Chunyan ; Seltzsam, Steve...
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 310-313 , 2021

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