E-LIB Suche - Ergebnisse für: Peter M. Krawitz

1

Enhancing Variant Prioritization in VarFish through On-Prem..:

Bhasin, Meghna Ahuja ; Knaus, Alexej ; Incardona, Pietro...
Genes. 15 (2024) 3 - p. 370 , 2024

2

Prioritization of non-coding elements involved in non-syndr..:

Zieger, Hanna K. ; Weinhold, Leonie ; Schmidt, Axel...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100166 , 2023

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

3

Computational facial analysis for rare Mendelian disorders:

Hsieh, Tzung‐Chien ; Krawitz, Peter M.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 3 - p. , 2023

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

4

Delineation of the adult phenotype of Coffin–Siris syndrome..:

Schmetz, Ariane ; Lüdecke, Hermann-Josef ; Surowy, Harald...
Human Genetics. 143 (2023) 1 - p. 71-84 , 2023

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

5

Understanding recessive disease risk in multi‐ethnic popula..:

La Rocca, Luis A. ; Frank, Julia ; Bentzen, Heidi Beate...
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

6

Deeplasia: deep learning for bone age assessment validated ..:

Rassmann, Sebastian ; Keller, Alexandra ; Skaf, Kyra...
Pediatric Radiology. 54 (2023) 1 - p. 82-95 , 2023

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

7

Facilitating the Molecular Diagnosis of Rare Genetic Disord..:

Hsieh, Tzung‐Chien ; Lesmann, Hellen ; Krawitz, Peter M.
Current Protocols. 3 (2023) 10 - p. , 2023

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

8

AI-based multi-PRS models outperform classical single-PRS m..:

Klau, Jan Henric ; Maj, Carlo ; Klinkhammer, Hannah...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

9

Biallelic variants in PIGN cause Fryns syndrome, multiple c..:

Loong, Lucy ; Tardivo, Agostina ; Knaus, Alexej...
Genetics in Medicine. 25 (2023) 1 - p. 37-48 , 2023

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

10

Next-generation phenotyping for rare Mendelian disorders:

Hsieh, Tzung-Chien , 2022

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

11

Künstliche Intelligenz bei der Diagnose Seltener Erkrankung..:

Krawitz, Peter M.
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 65 (2022) 11 - p. 1159-1163 , 2022

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

12

Perspectives on the future of dysmorphology:

Solomon, Benjamin D. ; Adam, Margaret P. ; Fong, Chin‐To...
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 659-671 , 2022

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

13

KBG syndrome: videoconferencing and use of artificial intel..:

Guo, Lily ; Park, Jiyeon ; Yi, Edward...
European Journal of Human Genetics. 30 (2022) 11 - p. 1244-1254 , 2022

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

14

Next‐generation phenotyping contributing to the identificat..:

Brand, Fabian ; Vijayananth, Aswinkumar ; Hsieh, Tzung‐Chien...
Human Mutation. 43 (2022) 11 - p. 1659-1665 , 2022

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

15

The GA4GH Phenopacket schema defines a computable represent..:

Jacobsen, Julius O. B. ; Baudis, Michael ; Baynam, Gareth S....
Nature Biotechnology. 40 (2022) 6 - p. 817-820 , 2022

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