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Neuron, ISSN 0896-6273, 11/2015, Volume 88, Issue 3, pp. 499 - 513
Journal Article
Psychiatry Investigation, ISSN 1738-3684, 07/2016, Volume 13, Issue 4, pp. 427 - 433
Objective We evaluated the distribution of alpha-2A adrenergic receptor (ADRA2A) and catechol-o-methyltransferase (COMT) single nucleotide polymorphisms (SNPs)... 
ADHD | Genetics | Phenotype | COMT | ADRA2A | ALPHA-2A-ADRENERGIC RECEPTOR GENE | PSYCHIATRY | INATTENTIVE TYPE | POLYMORPHISM | DEFICIT/HYPERACTIVITY DISORDER | CHILDREN | NO ASSOCIATION | CATECHOL-O-METHYLTRANSFERASE | METHYLPHENIDATE | Original | 정신과학
Journal Article
Rheumatology, ISSN 1462-0324, 03/2019, Volume 58, Issue Supplement_2
Journal Article
International Journal of Human Genetics, ISSN 0972-3757, 03/2016, Volume 16, Issue 1-2, pp. 29 - 34
The aim of this paper is to demonstrate the prenatal screening variables and risk factors of pregnancies with Down syndrome (DS) babies, and to explicate... 
Invasive Prenatal Testing | Pregnancy | Amniocentesis | Aneuploidy | Ethical Issues | Invasive prenatal testing | Ethical issues | METAANALYSIS | LIVE BIRTH | RISK | PREVALENCE | NEURAL-NETWORKS | GENETICS & HEREDITY | INVASIVE TESTS | DIAGNOSTIC SYSTEM | CELL-FREE DNA | AGE
Journal Article
Neuropediatrics, ISSN 0174-304X, 02/2019, Volume 50, Issue 1, pp. 041 - 045
Abstract Up to 15% of Duchenne's muscular dystrophy (DMD) is caused by nonsense mutations (nm-DMD). In this study, we aimed to evaluate the age at diagnosis,... 
Original Article | nonsense mutation | diagnostic approach | Duchenne's muscular dystrophy | molecular diagnosis | MANAGEMENT | DECADE CRITICAL-ISSUES | PEDIATRICS | DUCHENNE MUSCULAR-DYSTROPHY | AREAS | ATALUREN | CLINICAL NEUROLOGY
Journal Article
Zeitschrift für Geburtshilfe und Neonatologie, ISSN 0948-2393, 10/2019, Volume 223, Issue 5, pp. 297 - 303
AbstractWe aimed to configure impaired/altered metabolomic profiles of pregnant women carrying Down syndrome (DS) fetuses. The study involved 21 and 32... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3143 - 3152
Journal Article
Chronobiology International, ISSN 0742-0528, 10/2019, Volume 36, Issue 10, pp. 1343 - 1350
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 1/2019, Volume 39, Issue 1, pp. 99 - 105
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2019, Volume 179, Issue 12, pp. 2474 - 2480
Noonan syndrome‐like disorder with loose anagen hair (NS/LAH) is one of the RASopathies, a group of clinically related developmental disorders caused by... 
ADA2 | SHOC2 | DADA2 | consanguinity | Noonan syndrome‐like disorder with loose anagen hair | Hair | MAP kinase | Noonan's syndrome | Mutation | Fever
Journal Article
Journal Article