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The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1190 - 1198
Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we... 
OCULAR MELANOMA | CELLS | COLORECTAL-CANCER | PROTEINS DLK1 | METASTASES | GENETICS & HEREDITY | RISK | EXPRESSION | RADIATION | SF3B1 | SOMATIC MUTATIONS | Melanoma - diagnosis | Exons | Humans | Middle Aged | Male | Phosphoproteins - metabolism | Case-Control Studies | RNA Splicing Factors - metabolism | DNA Copy Number Variations | Melanoma - genetics | Melanocytes - pathology | Tumor Suppressor Proteins - genetics | Aged, 80 and over | Ubiquitin Thiolesterase - metabolism | Adult | Female | Membrane Proteins - metabolism | Eukaryotic Initiation Factor-1 - metabolism | GTP-Binding Protein alpha Subunits, Gq-G11 - metabolism | Tumor Suppressor p53-Binding Protein 1 - metabolism | GTP-Binding Protein alpha Subunits, Gq-G11 - genetics | Uveal Neoplasms - genetics | Genome-Wide Association Study | Tumor Suppressor Proteins - metabolism | GTP-Binding Protein alpha Subunits - metabolism | Tumor Suppressor p53-Binding Protein 1 - genetics | Membrane Proteins - genetics | Eukaryotic Initiation Factor-1 - genetics | Ubiquitin-Protein Ligases - metabolism | GTP-Binding Protein alpha Subunits - genetics | Phosphoproteins - genetics | RNA Splicing Factors - genetics | Ubiquitin Thiolesterase - genetics | Skin Neoplasms | Uveal Neoplasms - diagnosis | Aged | Mutation | Ubiquitin-Protein Ligases - genetics | Genetic aspects | Nucleotide sequencing | Methods | Melanoma | DNA sequencing | Metastasis | Pathogenesis | Genomics | Deoxyribonucleic acid--DNA | Index Medicus | Report
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 06/2019, Volume 10, Issue 1, pp. 1 - 7
Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen... 
RP1 | ALLELES | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | DISEASE | RISK | MUTATIONS | IDENTIFICATION | RETINITIS-PIGMENTOSA | ASSOCIATION | Blindness | Alleles | Retinal degeneration | Insertion | Retina | Heredity | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 623 - 629
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 770 - 776
Journal Article
Animal Biotechnology, ISSN 1049-5398, 10/2013, Volume 24, Issue 4, pp. 268 - 277
Journal Article
Animal biotechnology, 2013, Volume 24, Issue 4, pp. 268 - 277
In this study we resequenced 1729 bp of the rabbit melanocortin 4 receptor (MC4 R) gene in 31 rabbits from different breeds/lines and identified ten... 
Amino Acid Sequence | Rabbits | Molecular Sequence Annotation | Molecular Sequence Data | Male | Receptor, Melanocortin, Type 4 - genetics | Mutation, Missense | Livestock - genetics | Body Weight - genetics | Meat | Phenotype | Animals | Computer Simulation | Female | Polymorphism, Single Nucleotide | Index Medicus
Journal Article
Thermochimica Acta, ISSN 0040-6031, 2004, Volume 423, Issue 1, pp. 149 - 157
Three zinc(II) pyridinecarboxylate complexes, namely [Zn(nicot) (H O) ], [Zn(picol) (H O) ]·2H O and [Zn(dipicolH) ]·3H O, where nicot = nicotinate, picol =... 
Dipicolinic acid | Picolinic acid | Zinc complexes | Structures | Thermal decomposition | Nicotinic acid | FREQUENCIES | CHEMISTRY, ANALYTICAL | thermal decomposition | dipicolinic acid | CU(II) | COPPER(II) | zinc complexes | structures | picolinic acid | CHEMISTRY, PHYSICAL | COORDINATION | DIHYDRATE | NICOTINIC-ACID | LIGANDS | DERIVATIVES | nicotinic acid
Journal Article
Acta Crystallographica Section C: Crystal Structure Communications, ISSN 0108-2701, 08/1996, Volume 52, Issue 8, pp. 1917 - 1919
In the title compound, [ZnI2(C8H8N2O3)(2)], the Zn atom, which lies on a twofold axis, exists in a slightly distorted tetrahedral geometry involving two... 
CRYSTALLOGRAPHY
Journal Article
Acta Crystallographica Section C: Crystal Structure Communications, ISSN 0108-2701, 04/1996, Volume 52, Issue 4, pp. 808 - 810
The structure of [ZnCl2(C8H8N2O3)(2)] containing the zwitterionic nicotinamide-N-1-acetate ligand (3-carbamoylpyridinium-1-acetate) is described. The complex... 
CRYSTALLOGRAPHY
Journal Article
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