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Psychopharmacology, ISSN 0033-3158, 02/2016, Volume 233, Issue 4, pp. 727 - 737
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 455 - 459
KAT6B sequence variants have been identified in both patients with the Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS) and in the genitopatellar syndrome... 
skeletal anomalies | KAT6B‐related disorders | focused exome sequencing | KAT6B-related disorders | RETARDATION | GENETICS & HEREDITY | HISTONE ACETYLTRANSFERASE | MUTATIONS | PHENOTYPIC SPECTRUM | Patella - physiopathology | Scrotum - abnormalities | Scrotum - physiopathology | Exons | Humans | Joint Instability - genetics | Histone Acetyltransferases - genetics | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Female | Psychomotor Disorders - physiopathology | Urogenital Abnormalities - physiopathology | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Kidney - physiopathology | Haploinsufficiency - genetics | Genetic Association Studies | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Phenotype | Kidney - abnormalities | Alleles | Heart Defects, Congenital - physiopathology | Mutation | Joint Instability - physiopathology | Blepharophimosis - physiopathology | Urogenital Abnormalities - genetics | Medical genetics | Intellectual disabilities | Genotypes | Haploinsufficiency
Journal Article
Intensive Care Medicine Experimental, ISSN 2197-425X, 12/2015, Volume 3, Issue S1, pp. 1 - 2
  Issue Title: ESICM LIVES 2015 
Medicine & Public Health | Intensive / Critical Care Medicine
Journal Article
Journal Article
Korean Journal of Anesthesiology, ISSN 2005-6419, 2017, Volume 70, Issue 3, pp. 311 - 317
Patient-controlled analgesia (PCA) is used to manage postoperative pain. Postoperatively, some patients need to be re-instructed on its correct use. This study... 
Postoperative pain | Patient-controlled analgesia | Pain measurement | Pain management | Opioid analgesics | Clinical | 마취과학
Journal Article
Journal Article
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 09/2018, Volume 10, Issue 9
The diverse clinical phenotypes of Wolf–Hirschhorn syndrome (WHS) are the result of haploinsufficiency of several genes, one of which, LETM1, encodes a protein... 
Cell proliferation | Carbohydrates | Phenotypes | Dehydrogenases | Ketones | Nucleoids | Ribosomes | Pyruvic acid | Lipids | Mitochondrial DNA | Ketone bodies | Glucose | Metabolism | Organelles | Protein turnover | Membrane proteins | Haploinsufficiency | Clonal deletion | Cell death | Fibroblasts | Nutrient availability | Nutrients | Oxidation | Deoxyribonucleic acid--DNA
Journal Article
Trials, ISSN 1745-6215, 07/2011, Volume 12, Issue 1, pp. 170 - 170
Journal Article
Neurobiology of aging, ISSN 0197-4580, 03/2019
Variants in tank-binding kinase 1 (TBK1) are responsible for a significant proportion of amyotrophic lateral sclerosis (ALS) cases. In the present study, we... 
Journal Article