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Martin Atta Mensah

Showing results (1-10 of 9) with videos related to

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Journal of Medical Internet Research|March 13, 2024
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy StudyAlisa Maria Vittoria Reiter, Jean Tori Pantel, Magdalena Danyel, et al.
Clinical Genetics|September 5, 2021
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal thirdHenrike Lisa Sczakiel, Wiebke Hülsemann, Manuel Holtgrewe, et al.
Journal of Medical Internet Research|October 22, 2020
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy StudyJean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel, et al.
American Journal of Medical Genetics. Part A|June 28, 2020
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individualsAude-Annick Suter, Fernando Santos-Simarro, Pernille Mathiesen Toerring, et al.
Nucleic Acids Research|May 20, 2024
REEV: review, evaluate and explain variantsDzmitry Hramyka, Henrike Lisa Sczakiel, Max Xiaohang Zhao, et al.
Human Genetics|August 26, 2021
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locusUirá Souto Melo, Juliette Piard, Björn Fischer-Zirnsak, et al.
American Journal of Human Genetics|May 30, 2020
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental DiseasesUirá Souto Melo, Robert Schöpflin, Rocio Acuna-Hidalgo, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Journal of Medical Internet Research|March 13, 2024
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy StudyAlisa Maria Vittoria Reiter, Jean Tori Pantel, Magdalena Danyel, et al.
Clinical Genetics|September 5, 2021
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal thirdHenrike Lisa Sczakiel, Wiebke Hülsemann, Manuel Holtgrewe, et al.
Journal of Medical Internet Research|October 22, 2020
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy StudyJean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel, et al.
American Journal of Medical Genetics. Part A|June 28, 2020
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individualsAude-Annick Suter, Fernando Santos-Simarro, Pernille Mathiesen Toerring, et al.
Nucleic Acids Research|May 20, 2024
REEV: review, evaluate and explain variantsDzmitry Hramyka, Henrike Lisa Sczakiel, Max Xiaohang Zhao, et al.
Human Genetics|August 26, 2021
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locusUirá Souto Melo, Juliette Piard, Björn Fischer-Zirnsak, et al.
American Journal of Human Genetics|May 30, 2020
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental DiseasesUirá Souto Melo, Robert Schöpflin, Rocio Acuna-Hidalgo, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 1