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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 16, 2023
Computational facial analysis for rare Mendelian disorders
Tzung-Chien Hsieh, Peter M Krawitz
Current Protocols
|
October 9, 2023
Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores
Tzung-Chien Hsieh, Hellen Lesmann, Peter M Krawitz
Studies in Health Technology and Informatics
|
May 19, 2023
Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders
Ömer Sümer, Fabio Hellmann, Alexander Hustinx, et al.
European Journal of Human Genetics : EJHG
|
June 24, 2025
Houge-Janssens syndrome
Gunnar Douzgos Houge, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2024
Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion
Anna Hau, Anne Baxter, Kate Chandler, et al.
Genes
|
March 28, 2024
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis
Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, et al.
American Journal of Medical Genetics. Part A
|
May 10, 2024
Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome
Annabelle Arlt, Alexej Knaus, Tzung-Chien Hsieh, et al.
Frontiers in Genetics
|
July 28, 2025
Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool
Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, et al.
Frontiers in Genetics
|
December 11, 2023
Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank
Emadeldin Hassanin, Ko-Han Lee, Tzung-Chien Hsieh, et al.
Journal of Inherited Metabolic Disease
|
April 7, 2018
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
Jean T Pantel, Max Zhao, Martin A Mensah, et al.
Page
of 6
Search research articles
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Showing results (1-10 of 59) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 16, 2023
Computational facial analysis for rare Mendelian disorders
Tzung-Chien Hsieh, Peter M Krawitz
Current Protocols
|
October 9, 2023
Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores
Tzung-Chien Hsieh, Hellen Lesmann, Peter M Krawitz
Studies in Health Technology and Informatics
|
May 19, 2023
Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders
Ömer Sümer, Fabio Hellmann, Alexander Hustinx, et al.
European Journal of Human Genetics : EJHG
|
June 24, 2025
Houge-Janssens syndrome
Gunnar Douzgos Houge, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2024
Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion
Anna Hau, Anne Baxter, Kate Chandler, et al.
Genes
|
March 28, 2024
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis
Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, et al.
American Journal of Medical Genetics. Part A
|
May 10, 2024
Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome
Annabelle Arlt, Alexej Knaus, Tzung-Chien Hsieh, et al.
Frontiers in Genetics
|
July 28, 2025
Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool
Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, et al.
Frontiers in Genetics
|
December 11, 2023
Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank
Emadeldin Hassanin, Ko-Han Lee, Tzung-Chien Hsieh, et al.
Journal of Inherited Metabolic Disease
|
April 7, 2018
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
Jean T Pantel, Max Zhao, Martin A Mensah, et al.
Page
of 6