E-LIB Suche - Ergebnisse für: Danyel, Magdalena

1

REEV: review, evaluate and explain variants:

Hramyka, Dzmitry ; Sczakiel, Henrike Lisa ; Zhao, Max Xiaohang...
Nucleic Acids Research. , 2024

2

Broadening the phenotypic and molecular spectrum of FINCA s..:

Sczakiel, Henrike L. ; Zhao, Max ; Wollert-Wulf, Brigitte...
European Journal of Human Genetics. 31 (2023) 8 - p. 905-917 , 2023

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

3

Biallelic known and novel DCDC2 variants in cholestatic liv..:

Azabdaftari, Aline ; Sczakiel, Henrike L. ; Danyel, Magdalena...
Liver International. 43 (2023) 5 - p. 1089-1095 , 2023

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

4

Case report: KPTN gene-related syndrome associated with a s..:

Horn, Svea ; Danyel, Magdalena ; Erdmann, Nina...
Frontiers in Neurology. 13 (2023) - p. , 2023

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

5

Three-Dimensional Histological Characterization of the Plac..:

Freise, Lennart ; Behncke, Rose Yinghan ; Allerkamp, Hanna Helene...
Biomolecules. 13 (2023) 6 - p. 1009 , 2023

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

6

Patient with a novel syndrome with multiple benign hepatic ..:

Wilken, Silvana ; Thevathasan, Tharusan ; Kamali, Can...
Clinical Journal of Gastroenterology. 17 (2023) 2 - p. 300-306 , 2023

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

7

GestaltMatcher facilitates rare disease matching using faci..:

Hsieh, Tzung-Chien ; Bar-Haim, Aviram ; Moosa, Shahida...
Nature Genetics. 54 (2022) 3 - p. 349-357 , 2022

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

8

Charakterisierung von Patienten mit Familiärer Hypercholes..:

Danyel, Magdalena , 2021

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

9

CADA: phenotype-driven gene prioritization based on a case-..:

Peng, Chengyao ; Dieck, Simon ; Schmid, Alexander...
NAR Genomics and Bioinformatics. 3 (2021) 3 - p. , 2021

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

10

Evaluation of the role of STAP1 in Familial Hypercholestero..:

Danyel, Magdalena ; Ott, Claus-Eric ; Grenkowitz, Thomas...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

11

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 ..:

Danyel, Magdalena ; Suk, Eun Kyung ; Raile, Vera...
BMC Medical Genomics. 12 (2019) 1 - p. , 2019

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

12

PEDIA: prioritization of exome data by image analysis:

Hsieh, Tzung-Chien ; Mensah, Martin A. ; Pantel, Jean T....
Genetics in Medicine. 21 (2019) 12 - p. 2807-2814 , 2019

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

13

Differentiation of MISSLA and Fanconi anaemia by computer-a..:

Danyel, Magdalena ; Cheng, Zhuo ; Jung, Christine...
European Journal of Human Genetics. 27 (2019) 12 - p. 1827-1835 , 2019

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

14

Autosomal dominant Robinow syndrome associated with a novel..:

Danyel, Magdalena ; Kortüm, Fanny ; Dathe, Katarina..
American Journal of Medical Genetics Part A. 176 (2018) 4 - p. 992-996 , 2018

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

15

Case report: KPTN gene-related syndrome associated with a s..:

Horn, Svea ; Danyel, Magdalena ; Erdmann, Nina...
Frontiers in Neurology, 2023, 13,. , 2023

Link: http://urn.kb.se/resolve..