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Journal of Clinical Investigation, ISSN 0021-9738, 03/2013, Volume 123, Issue 3, pp. 1343 - 1347
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes... 
BLEPHAROPHIMOSIS | DE-NOVO MUTATIONS | MENTAL-RETARDATION | CAUSE GENITOPATELLAR SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | OHDO SYNDROME | HISTONE ACETYLTRANSFERASE KAT6B | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Index Medicus | Life Sciences | Human genetics
Journal Article
Brain, ISSN 0006-8950, 03/2018, Volume 141, Issue 3, pp. 688 - 697
Journal Article
Genome Research, ISSN 1088-9051, 2016, Volume 26, Issue 2, pp. 183 - 191
Journal Article
Human Genetics, ISSN 0340-6717, 7/2014, Volume 133, Issue 7, pp. 939 - 949
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 3006 - 3010
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2015, Volume 11, Issue 3
  Light is an important environmental cue that affects physiology and development of Neurospora crassa. The light-sensing transcription factor (TF) WCC, which... 
Signal transduction | Chromatin | Transcription factors | Photoreceptors | Physiology | Circadian rhythm | Gene expression | Binding sites
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2018, Volume 176, Issue 1, pp. 187 - 193
Journal Article
Separation and Purification Technology, ISSN 1383-5866, 01/2013, Volume 103, pp. 173 - 179
► Removal of methyl p-toluenesulfonate can be achieved with a simple scavenging approach. ► Scavengers behave additionally as ion exchangers. ► Scavengers bind... 
Methyl p-toluenesulfonate | Genotoxic impurities | Pharmaceutical formulations | ENGINEERING, CHEMICAL | MOLECULARLY IMPRINTED POLYMERS | REMOVAL | 1,3-DIISOPROPYLUREA | RECOGNITION | SAFETY | AMINES | ORGANIC-SOLVENT NANOFILTRATION | INGREDIENTS
Journal Article
Process Biochemistry, ISSN 1359-5113, 2011, Volume 46, Issue 8, pp. 1688 - 1692
Journal Article
Turk Kardiyoloji Dernegi Arsivi, ISSN 1016-5169, 2013, Volume 41, Issue 2, pp. 99 - 104
Journal Article