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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
Frontiers in Psychiatry, ISSN 1664-0640, 2015, Volume 6, pp. 105 - 105
Journal Article
Current Protocols in Human Genetics, ISSN 1934-8266, 2013, Volume 2, Issue 78, p. 2.9
The genotyping of single nucleotide polymorphisms (SNPs) has successfully contributed to the study of complex diseases more than any other technology to date.... 
High-throughput | Genome-wide association study (GWAS) | genotyping | Focused microarrays | Infinium assay | Single nucleotide polymorphism (SNP) | fine-mapping | Polymorphism, Single Nucleotide | Genotyping Techniques | Oligonucleotide Array Sequence Analysis - methods | Humans
Journal Article
Journal Article
British Journal of Pharmacology, ISSN 0007-1188, 07/2015, Volume 172, Issue 13, pp. 3212 - 3228
Journal Article
International Journal of Hyperthermia, ISSN 0265-6736, 08/2018, Volume 34, Issue 6, pp. 840 - 852
Journal Article