Chromosomal Deletion

Chromosomal deletion includes the loss of a gene sequence of DNA. The location and the genes deleted determines the significance of this abnormality. There are many identified genetic disorders that are a result from chromosomal deletion including cri du chat and Prader-Willi syndrome. Discover the latest research on chromosomal deletions here.

May 28, 2020

The roles of the site-2 protease Eep in Staphylococcus aureus

Journal of Bacteriology
Danhong ChengQian Liu
May 16, 2020
Open Access

Growth hormone treatment in Prader-Willi syndrome patients: systematic review and meta-analysis

BMJ Paediatrics Open
Caroline de Gouveia Buff PassoneWanderley Marques Bernardo
May 20, 2020

Olfactory hypoplasia and oculomotor nerve hypoplasia in a patient with Wolf-Hirschhorn syndrome

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Hee Kyung YangJeong-Min Hwang
May 25, 2020
Review

State of the Art of Genetic Testing for Patients With Autism: A Practical Guide for Clinicians

Seminars in Pediatric Neurology
Bracha L Kreiman, Richard G Boles
May 19, 2020

Colocalization of Oxtr with Prader-Willi Syndrome transcripts in the trigeminal ganglion of neonatal mice

Human Molecular Genetics
Radhika VaidyanathanElizabeth A D Hammock
May 25, 2020

Hearing the feeling: Auditory emotion perception in Williams syndrome

Research in Developmental Disabilities
Pamela HeatonDeborah M Riby
May 28, 2020
Open Access

Novel Insights into the Role of UBE3A in Regulating Apoptosis and Proliferation

Journal of Clinical Medicine
Lilach SimchiHanoch Kaphzan

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