E-LIB Suche - Ergebnisse für: Schaaf, Christian P.

1

Truncated variants of MAGEL2 are involved in the etiologies..:

Heimdörfer, David ; Vorleuter, Alexander ; Eschlböck, Alexander...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1383-1404 , 2024

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

2

MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome:

Schubert, Tim ; Schaaf, Christian P.
Developmental Medicine & Child Neurology. , 2024

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

3

Comparative analysis of gene and disease selection in genom..:

Betzler, Isabel R. ; Hempel, Maja ; Mütze, Ulrike...
Journal of Inherited Metabolic Disease. , 2024

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

4

DNA methylation episignature, extension of the clinical fea..:

van der Laan, Liselot ; Karimi, Karim ; Rooney, Kathleen...
Genetics in Medicine. 26 (2024) 3 - p. 101050 , 2024

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

5

Response to Beretich and Beretich:

Vockley, Jerry ; Brunetti-Pierri, Nicola ; Chung, Wendy K....
Genetics in Medicine. 25 (2023) 10 - p. 100903 , 2023

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

6

Magel2 truncation alters select behavioral and physiologica..:

Reznik, Derek L. ; Yang, Mingxiao V. ; Albelda de la Haza, Pedro...
Disease Models & Mechanisms. 16 (2023) 2 - p. , 2023

Link: https://doi.org/10.1242/..

7

BRCA1/2 potential founder variants in the Jordanian populat..:

Ahmad, Olfat ; Sutter, Christian ; Hirsch, Steffen..
Hereditary Cancer in Clinical Practice. 21 (2023) 1 - p. , 2023

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

8

Caregiver‐based perception of disease burden in Schaaf‐Yang..:

Dötsch, Laura ; Matesevac, Lisa ; Strong, Theresa V..
Molecular Genetics & Genomic Medicine. 11 (2023) 12 - p. , 2023

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

9

aRgus: Multilevel visualization of non-synonymous single nu..:

Schröter, Julian ; Dattner, Tal ; Hüllein, Jennifer...
Computational and Structural Biotechnology Journal. 21 (2023) - p. 1077-1083 , 2023

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

10

NCT/DKFZ MASTER handbook of interpreting whole-genome, tran..:

Mock, Andreas ; Teleanu, Maria-Veronica ; Kreutzfeldt, Simon...
npj Precision Oncology. 7 (2023) 1 - p. , 2023

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

11

The evolving role of medical geneticists in the era of gene..:

Vockley, Jerry ; Brunetti-Pierri, Nicola ; Chung, Wendy K....
Genetics in Medicine. 25 (2023) 4 - p. 100022 , 2023

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

12

Genomisches Neugeborenenscreening – Forschungsansätze, Hera..:

Brennenstuhl, Heiko ; Schaaf, Christian P.
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 66 (2023) 11 - p. 1232-1242 , 2023

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

13

An analgesic pathway from parvocellular oxytocin neurons to..:

Iwasaki, Mai ; Lefevre, Arthur ; Althammer, Ferdinand...
Nature Communications. 14 (2023) 1 - p. , 2023

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

14

Sequencing individual genomes with recurrent genomic disord..:

Yuan, Bo ; Schulze, Katharina V. ; Assia Batzir, Nurit...
Genome Medicine. 14 (2022) 1 - p. , 2022

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

15

Multiple Arterial Dissections and Connective Tissue Abnorma..:

Erhart, Philipp ; Körfer, Daniel ; Dihlmann, Susanne...
Journal of Clinical Medicine. 11 (2022) 12 - p. 3264 , 2022

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