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Medrxiv : the Preprint Server for Health Sciences
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June 26, 2025
Evaluation of a Deep Learning and XAI based Facial Phenotyping Tool for Genetic Syndromes: A Clinical User Study
Ömer Sümer, Tobias Huber, Dat Duong, et al.
Npj Aging
|
May 3, 2025
Assessing large language model performance related to aging in genetic conditions
Amna A Othman, Kendall A Flaharty, Suzanna E Ledgister Hanchard, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 26, 2025
Assessing Large Language Model Performance Related to Aging in Genetic Conditions
Amna A Othman, Kendall A Flaharty, Suzanna E Ledgister Hanchard, et al.
Human Genetics
|
August 16, 2011
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH
Daniel E Pineda-Alvarez, Erich Roessler, Ping Hu, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 4, 2023
Generative Methods for Pediatric Genetics Education
Rebekah L Waikel, Amna A Othman, Tanviben Patel, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 28, 2010
Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature
Amelia A Keaton, Benjamin D Solomon, Anthonie J van Essen, et al.
JAMA Network Open
|
March 15, 2024
Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence
Rebekah L Waikel, Amna A Othman, Tanviben Patel, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2010
Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia
Benjamin D Solomon, Eileen Lange, Jay Shubrook, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 28, 2010
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature
Emily F Kauvar, Benjamin D Solomon, Cynthia J R Curry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 25, 2022
Scoping review and classification of deep learning in medical genetics
Suzanna E Ledgister Hanchard, Michelle C Dwyer, Simon Liu, et al.
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of 18
Search research articles
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Showing results (91-100 of 179) with videos related to
Sort By:
Page
of 18
Medrxiv : the Preprint Server for Health Sciences
|
June 26, 2025
Evaluation of a Deep Learning and XAI based Facial Phenotyping Tool for Genetic Syndromes: A Clinical User Study
Ömer Sümer, Tobias Huber, Dat Duong, et al.
Npj Aging
|
May 3, 2025
Assessing large language model performance related to aging in genetic conditions
Amna A Othman, Kendall A Flaharty, Suzanna E Ledgister Hanchard, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 26, 2025
Assessing Large Language Model Performance Related to Aging in Genetic Conditions
Amna A Othman, Kendall A Flaharty, Suzanna E Ledgister Hanchard, et al.
Human Genetics
|
August 16, 2011
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH
Daniel E Pineda-Alvarez, Erich Roessler, Ping Hu, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 4, 2023
Generative Methods for Pediatric Genetics Education
Rebekah L Waikel, Amna A Othman, Tanviben Patel, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 28, 2010
Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature
Amelia A Keaton, Benjamin D Solomon, Anthonie J van Essen, et al.
JAMA Network Open
|
March 15, 2024
Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence
Rebekah L Waikel, Amna A Othman, Tanviben Patel, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2010
Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia
Benjamin D Solomon, Eileen Lange, Jay Shubrook, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 28, 2010
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature
Emily F Kauvar, Benjamin D Solomon, Cynthia J R Curry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 25, 2022
Scoping review and classification of deep learning in medical genetics
Suzanna E Ledgister Hanchard, Michelle C Dwyer, Simon Liu, et al.
Page
of 18