Showing results (21-30 of 70) with videos related to

Sort By:
Pageof 7
Patterns (New York, N.Y.)|October 25, 2021
Knowledge transfer to enhance the performance of deep learning models for automated classification of B cell neoplasmsNanditha Mallesh, Max Zhao, Lisa Meintker, et al.
Journal of Inherited Metabolic Disease|April 7, 2018
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolismJean T Pantel, Max Zhao, Martin A Mensah, et al.
Molecular Genetics & Genomic Medicine|October 22, 2014
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndromePeter M Krawitz, Daniela Schiska, Ulrike Krüger, et al.
American Journal of Human Genetics|July 30, 2019
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain AnomaliesAlexej Knaus, Fanny Kortüm, Tjitske Kleefstra, et al.
Nature Medicine|January 9, 2019
Identifying facial phenotypes of genetic disorders using deep learningYaron Gurovich, Yair Hanani, Omri Bar, et al.
Human Mutation|September 15, 2022
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndromeFabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, et al.
Human Genome Variation|April 13, 2026
Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspotSheetal Kumar, Sohail Ahmed, Pietro Incardona, et al.
Blood|June 5, 2013
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGTPeter M Krawitz, Britta Höchsmann, Yoshiko Murakami, et al.
American Journal of Medical Genetics. Part A|December 9, 2022
Perspectives on the future of dysmorphologyBenjamin D Solomon, Margaret P Adam, Chin-To Fong, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patientsLily Guo, Jiyeon Park, Edward Yi, et al.
Pageof 7