E-LIB Suche - Ergebnisse für: Sczakiel, Henrike Lisa

1

RNA analysis and computer‐aided facial phenotyping help to ..:

Schwartzmann, Sarina ; Zhao, Max ; Sczakiel, Henrike Lisa...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

2

REEV: review, evaluate and explain variants:

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

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

3

Novel mutation and expanding phenotype in IRF2BP2 deficienc:

Körholz, Julia ; Gabrielyan, Anastasia ; Sczakiel, Henrike Lisa...
Rheumatology. 62 (2022) 4 - p. 1699-1705 , 2022

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

4

Identifizierung Pathogenese-relevanter Kandidatengene im Ho..:

Sczakiel, Henrike Lisa , 2021

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

5

GLI3 variants causing isolated polysyndactyly are not restr..:

Sczakiel, Henrike Lisa ; Hülsemann, Wiebke ; Holtgrewe, Manuel...
Clinical Genetics. 100 (2021) 6 - p. 758-765 , 2021

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

6

Identifizierung Pathogenese-relevanter Kandidatengene im Ho..:

Sczakiel, Henrike Lisa
https://refubium.fu-berlin.de/handle/fub188/28942. , 2021

Link: https://refubium.fu-berl..

7

GLI3 variants causing isolated polysyndactyly are not restr..:

Sczakiel, Henrike Lisa ; Hülsemann, Wiebke ; Holtgrewe, Manuel...
https://refubium.fu-berlin.de/handle/fub188/37214. , 2021

Link: https://refubium.fu-berl..

8

HOXD13-associated synpolydactyly: Extending and validating ..:

Gottschalk, Annika ; Sczakiel, Henrike L. ; Hülsemann, Wiebke...
Genetics in Medicine. 25 (2023) 11 - p. 100928 , 2023

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

9

Aberrant phase separation and nucleolar dysfunction in rare..:

Mensah, Martin A. ; Niskanen, Henri ; Magalhaes, Alexandre P....
Nature. , 2023

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

10

An autosomal-dominant childhood-onset disorder associated w..:

Mah-Som, Annelise Y. ; Daw, Jil ; Huynh, Diana...
The American Journal of Human Genetics. 110 (2023) 11 - p. 1959-1975 , 2023

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

11

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/..

12

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/..

13

Whole genome sequencing in families with oligodontia:

Mitscherling, Janna ; Sczakiel, Henrike L. ; Kiskemper‐Nestorjuk, Olga...
Oral Diseases. , 2023

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

14

Xq27.1 palindrome mediated interchromosomal insertion likel..:

Boschann, Felix ; Moreno, Daniel Acero ; Mensah, Martin A....
Journal of Human Genetics. 67 (2022) 7 - p. 405-410 , 2022

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

15

Focal structural variants revealed by whole genome sequenci..:

Lopez, Cristina ; Schleussner, Nikolai ; Bernhart, Stephan H....
Haematologica. 108 (2022) 2 - p. 543-554 , 2022

Link: https://doi.org/10.3324/..