[HTML][HTML] FAM193A is a positive regulator of p53 activity
Inactivation of the p53 tumor suppressor, either by mutations or through hyperactivation of
repressors such as MDM2 and MDM4, is a hallmark of cancer. Although many inhibitors of …
repressors such as MDM2 and MDM4, is a hallmark of cancer. Although many inhibitors of …
Etiology and the genetic basis of intellectual disability in the pediatric population
V Tomac, S Pušeljić, I Škrlec, M Anđelić… - Southeastern …, 2017 - hrcak.srce.hr
Sažetak Intellectual disability/mental retardation (ID/MR) is defined as incomplete mental
and cognitive development present before the age of 18. There are number of pre-natal and …
and cognitive development present before the age of 18. There are number of pre-natal and …
Inherited unbalanced translocation (4p16. 3p15. 32 duplication/8p23. 3p23. 2deletion) in the four generation pedigree with intellectual disability/developmental delay
D Hao, Y Li, L Chen, X Wang, M Wang, Y Yu - Molecular Cytogenetics, 2021 - Springer
Chromosomal copy number variants (CNVs) are an important cause of congenital
malformations and mental retardation. This study reported a large Chinese pedigree (4 …
malformations and mental retardation. This study reported a large Chinese pedigree (4 …
[PDF][PDF] Autism Spectrum Disorder–Advances in Genomics and Impact of Early Behavioral Intervention
B Johnson - BMH Medical Journal-ISSN 2348–392X, 2018 - scholar.archive.org
Autism spectrum disorder is a developmental disorder characterized by persistent deficits in
social interaction and communication. It is also associated with restricted, repetitive patterns …
social interaction and communication. It is also associated with restricted, repetitive patterns …
Análise composicional de sequenciamento completo do exoma de probandos do transtorno do espectro autista
VD Gastaldi - 2019 - teses.usp.br
O sequenciamento completo do exoma (SCE) cobre a porção codificadora de proteínas do
genoma, a qual representa apenas 1% do mesmo, mas que estima-se conter 85% das …
genoma, a qual representa apenas 1% do mesmo, mas que estima-se conter 85% das …
[PDF][PDF] Southeastern European Medical Journal (SEEMEDJ)
I Drenjančević, S Uzunović, B Zenica… - alztauprotect.hiim.hr
Aim: Our aim was to implement N-terminal proB-type natriuretic peptide (NT-proBNP) testing
at the Department of Medical Biochemistry and Laboratory Medicine (DMBLM), accredited …
at the Department of Medical Biochemistry and Laboratory Medicine (DMBLM), accredited …