Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
出版年份 2019 全文链接
标题
Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
作者
关键词
-
出版物
JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-05-29
DOI
10.1038/s10038-019-0619-z
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Natural history and genotype-phenotype correlations in 72 individuals with SATB2 -associated syndrome
- (2018) Yuri A. Zarate et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool
- (2018) Shivarajan M. Amudhavalli et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
- (2018) Jean T. Pantel et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
- (2018) Alexej Knaus et al. Genome Medicine
- PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases
- (2018) Toyofumi Fujiwara et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Studying Down syndrome recognition probabilities in Thai children with de-identified computer-aided facial analysis
- (2018) Nattariya Vorravanpreecha et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Patients with SATB2-associated syndrome exhibiting multiple odontomas
- (2018) Takashi Kikuiri et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
- (2018) Antonio Martinez-Monseny et al. JOURNAL OF MEDICAL GENETICS
- Identifying facial phenotypes of genetic disorders using deep learning
- (2018) Yaron Gurovich et al. NATURE MEDICINE
- Computer-Aided Recognition of Facial Attributes for Fetal Alcohol Spectrum Disorders
- (2017) Matthew Valentine et al. PEDIATRICS
- Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder
- (2016) Francisca Millan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes
- (2016) Karen W. Gripp et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis
- (2016) L. Basel-Vanagaite et al. CLINICAL GENETICS
- The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
- (2015) Tudor Groza et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Next-generation diagnostics and disease-gene discovery with the Exomiser
- (2015) Damian Smedley et al. Nature Protocols
- Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders
- (2014) Douglas R. Stewart et al. PLoS One
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