Last Updated: 09/26/2026
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Found 15 publications
Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin.
Journal: Frontiers in pediatrics
Published: December 14, 2021
A machine learning-based screening tool for genetic syndromes in children - Authors' reply.
Journal: The Lancet. Digital health
Published: November 22, 2021
Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.
Journal: The Lancet. Digital health
Published: January 12, 2021
Missense variant contribution to USP9X-female syndrome.
Journal: NPJ genomic medicine
Published: August 07, 2020
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Journal: American journal of human genetics
Published: August 08, 2017
Preoperative evaluation and comprehensive risk assessment for children with Down syndrome.
Journal: Paediatric anaesthesia
Published: December 01, 2015
Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate.
Journal: Advances in neonatal care : official journal of the National Association of Neonatal Nurses
Published: July 31, 2015
Ensemble learning for the detection of facial dysmorphology.
Journal: Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
Published: January 09, 2015
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Journal: American journal of human genetics
Published: October 24, 2014
Malignancy in Noonan syndrome and related disorders.
Journal: Clinical genetics
Published: August 01, 2014
Hierarchical constrained local model using ICA and its application to Down syndrome detection.
Journal: Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted Intervention
Published: March 01, 2014
Handheld optical coherence tomography during sedation in young children with optic pathway gliomas.
Journal: JAMA ophthalmology
Published: January 18, 2014
Last Updated: 09/26/2026