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Epilepsia, ISSN 0013-9580, 05/2019, Volume 60, Issue 5, pp. 830 - 844
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1 - 13
Targeting chokepoint enzymes in metabolic pathways has led to new drugs for cancers, autoimmune disorders and infectious diseases. This is also a cornerstone... 
LACTATE-DEHYDROGENASE | MAMMALIAN TARGET | MALATE-DEHYDROGENASE | DIHYDROOROTATE DEHYDROGENASE | FASCIOLA-HEPATICA | PLASMODIUM-FALCIPARUM | MULTIDISCIPLINARY SCIENCES | METHIONINE SYNTHASE | HIGHLY POTENT | DRUG TARGET | GENOME ANNOTATION | Enzymes | Azoles | Infectious diseases | Intestine | Amino acids | Metabolic pathways | Parasites | Phylogeny | Autoimmune diseases | Fecundity
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 | related disorders | KAT6B | 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 | Index Medicus
Journal Article
Journal Article
Journal of the American Academy of Child & Adolescent Psychiatry, ISSN 0890-8567, 2016, Volume 55, Issue 2, pp. 106 - 113.e4
Objective Recent studies have highlighted the impact of coexisting mental health problems in autism spectrum disorders (ASD). No twin studies to date have... 
Pediatrics | Psychiatry | behavioral genetics | autism spectrum disorders | comorbidity | mental health | Key words autism spectrum disorders | NATIONWIDE TWIN | PSYCHIATRY | PSYCHOLOGY, DEVELOPMENTAL | PREVALENCE | COMMUNITY-BASED TWIN | CHILDREN | LONGITUDINAL TWIN | MODEL SELECTION | PSYCHIATRIC-DISORDERS | PEDIATRICS | GENETIC INFLUENCES | INTERNALIZING TRAITS | Twins - genetics | Psychomotor Agitation - genetics | Comorbidity | Humans | Psychomotor Agitation - psychology | Child Development Disorders, Pervasive - etiology | Genetics, Behavioral | Male | Mental Health | Autism Spectrum Disorder - psychology | Emotions | Psychomotor Agitation - etiology | Twins - psychology | Phenotype | Child Development Disorders, Pervasive - genetics | Adolescent | Attention Deficit Disorder with Hyperactivity - etiology | Female | Autism Spectrum Disorder - etiology | Child | Behavior genetics | Analysis | Pervasive developmental disorders | Phenotypic plasticity | Causes of | Psychological research | Genetic aspects | Research | Diagnosis | Mental disorders | Hyperactivity | Bias | Health problems | Mental health | Environmental aspects | Identification | Coexistence | Confusion | Twin studies | Genotype & phenotype | Conduct disorders | Genetics | Genetic factors | Mental illness | Phenotypes | Fitting | Autistic spectrum disorders | Environmental factors | Autistic children | Autism | Causality | Twins | Psychiatric disorders | Symptoms | Index Medicus
Journal Article
Journal Article
CURRENT OPINION IN NEUROLOGY, ISSN 1350-7540, 04/2019, Volume 32, Issue 2, pp. 183 - 190
Purpose of review Recent publications point to an increasingly important role of variants in genes encoding GABA(A) receptor subunits associated with both... 
GABRA1 | neuronal inhibition | seizure | PROTEIN | GENERALIZED EPILEPSIES | CORTICAL INHIBITION | NEUROSCIENCES | PHENOTYPIC SPECTRUM | MOUSE MODELS | CLINICAL NEUROLOGY | ABSENCE EPILEPSY | exome sequencing | genetics | electrophysiology | MUTATION | GENES | SUBUNIT
Journal Article