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European Journal of Human Genetics, ISSN 1018-4813, 03/2013, Volume 21, Issue 3, pp. 310 - 316
Journal Article
Cancer Immunology, Immunotherapy, ISSN 0340-7004, 7/2019, Volume 68, Issue 7, pp. 1179 - 1185
No standard treatment has been defined for metastatic uveal melanoma (mUM). Although clinical trials testing Nivolumab/Pembrolizumab for cutaneous melanoma did... 
Pembrolizumab | Liver metastases | Immunology | Medicine & Public Health | First line | Immunotherapy | Uveal melanoma | Oncology | Cancer Research | CELLS | ONCOLOGY | PD-L1 EXPRESSION | LIVER | EXPERIENCE | IMMUNOLOGY | IPILIMUMAB | Care and treatment | Analysis | Liver | Melanoma | Metastasis | Drug therapy | Cancer | PD-1 protein | Toxicity | PD-L1 protein | Clinical trials | Diagnosis | Survival | Patients | Disease control | Metastases | Index Medicus | Original
Journal Article
Journal Article
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
European Journal of Human Genetics, ISSN 1018-4813, 10/2015, Volume 23, Issue 11, pp. 1499 - 1504
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, pp. e57145 - e57145
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 52, Issue 12, pp. 804 - 814
Journal Article
Journal Article
Journal Article
Journal Article