Team links gene to children with physical and intellectual disabilities S Yozwiak, Medical Xpress, August 15, 2019

Main|Search|PHGKB




Last Posted: Aug 16, 2019

---

• Team links gene to children with physical and intellectual disabilities
  S Yozwiak, Medical Xpress, August 15, 2019
• Medical Diagnosis of Cerebral Palsy Rehabilitation Using Eye Images in Machine Learning Techniques.
  Illavarason P et al. Journal of medical systems 2019 Jul 43(8) 278
• Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
  S Srivastava et al, Genetics in Medicine, June 10, 2019
• Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS .
  van Kuilenburg André B P et al. The New England journal of medicine 2019 380(15) 1433-1441
• Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants
  F Lecoquierre et al, Genetics in Medicine, April 30, 2019
• Why Act Early if You’re Concerned about Development?
  CDC, April 2019
• The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.
  Engwerda Aafke et al. European journal of human genetics : EJHG 2018 26(10) 1478-1489
• Investigating genes, environments, and their interactions in the service of informing individualized diagnosis and treatment in developmental disabilities.
  Esposito Gianluca et al. Research in developmental disabilities 2018 821-2
• Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.
  Jang Woori et al. Annals of laboratory medicine 2019 May 39(3) 299-310
• Diagnostic Yield of Intellectual Disability Gene Panels.
  Pekeles Heather et al. Pediatric neurology 2018 Nov

more