E-LIB Suche - Ergebnisse für: Hsieh, Tzung‐Chien

1

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

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

2

GANonymization: A GAN-based Face Anonymization Framework fo..:

Hellmann, Fabio ; Mertes, Silvan ; Benouis, Mohamed...
ACM Transactions on Multimedia Computing, Communications, and Applications. , 2024

Link: https://doi.org/10.1145/..

3

Next‐generation phenotyping in Nigerian children with Corne..:

Arlt, Annabelle ; Knaus, Alexej ; Hsieh, Tzung‐Chien...
American Journal of Medical Genetics Part A. , 2024

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

4

ZSCAN10 deficiency causes a neurodevelopmental disorder wit..:

Laugwitz, Lucia ; Cheng, Fubo ; Collins, Stephan C...
Brain. , 2024

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

5

Comparison of clinical geneticist and computer visual atten..:

Duong, Dat ; Johny, Anna Rose ; Ledgister Hanchard, Suzanna...
PLOS Genetics. 20 (2024) 2 - p. e1011168 , 2024

Link: https://doi.org/10.1371/..

6

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/..

7

P238: Discovery of the phenotypic landscape and mechanistic..:

Lyon, Gholson ; Vedaie, Marall ; Beisheim, Travis...
Genetics in Medicine Open. 1 (2023) 1 - p. 100266 , 2023

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

8

Expanding the phenotypic spectrum of NAA10-related neurodev..:

Lyon, Gholson J. ; Vedaie, Marall ; Beisheim, Travis...
European Journal of Human Genetics. 31 (2023) 7 - p. 824-833 , 2023

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

9

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
Frontiers in Cell and Developmental Biology. 10 (2023) - p. , 2023

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

10

Improving Deep Facial Phenotyping for Ultra-rare Disorder V..:

, In: 2023 IEEE/CVF Winter Conference on Applications of Computer Vision (WACV),

Hustinx, Alexander ; Hellmann, Fabio ; Sumer, Omer... - p. 5007-5017 , 2023

Link: https://doi.org/10.1109/..

11

Biallelic variants in CRIPT cause a Rothmund-Thomson-like s..:

Averdunk, Luisa ; Huetzen, Maxim A. ; Moreno-Andrés, Daniel...
Genetics in Medicine. 25 (2023) 7 - p. 100836 , 2023

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

12

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/..

13

Integration of EpiSign, facial phenotyping, and likelihood ..:

Forwood, Caitlin ; Ashton, Katie ; Zhu, Ying...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 3 - p. , 2023

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

14

O17: GestaltMatcher supports classification of ultra-rare d..:

Klinkhammer, Hannah ; Lesmann, Hellen ; Moosa, Shahida...
Genetics in Medicine Open. 1 (2023) 1 - p. 100113 , 2023

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

15

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/..