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Arthritis & Rheumatology, ISSN 2326-5191, 09/2016, Volume 68, Issue 9, pp. 2323 - 2327
To establish a diagnosis and provide counseling and treatment for 3 adult patients from one family presenting with peripheral osteolysis. Following clinical... 
Phenotype | Acid Ceramidase - genetics | Farber Lipogranulomatosis - diagnosis | Osteolysis - genetics | Pedigree | Farber Lipogranulomatosis - genetics | Humans | Middle Aged | Adult | Female | Male | Mutation | Enzymes | Rodents | Index Medicus | Abridged Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2015, Volume 167AA, Issue 12, pp. 2902 - 2912
Journal Article
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 Genetics, ISSN 1061-4036, 2016, Volume 48, Issue 7, pp. 777 - 784
Journal Article
The Journal of experimental medicine, ISSN 0022-1007, 03/2017, Volume 214, Issue 3, pp. 623 - 637
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 623 - 629
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 770 - 776
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 20, pp. 4546 - 4555
Journal Article
Bone, 11/2018, Volume 120, p. 354
LBR (Lamin B Receptor) encodes a bifunctional protein important for cholesterol biosynthesis and heterochromatin organization on the inner nuclear membrane.... 
Journal Article