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Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 03/2014, Volume 370, Issue 11, pp. 1019 - 1028
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 4, pp. 639 - 649
We investigated two male infant patients who were given a diagnosis of progressive mitochondrial encephalomyopathy on the basis of clinical, biochemical, and... 
OXIDATIVE-PHOSPHORYLATION | PROAPOPTOTIC STIMULI | ATROPHY | GENETICS & HEREDITY | PARTHANATOS | RELEASE | FACTOR AIF | Humans | Caspase 3 - metabolism | Male | Muscle, Skeletal - metabolism | DNA Primers - chemistry | Muscle, Skeletal - cytology | Flavin-Adenine Dinucleotide - metabolism | DNA, Mitochondrial - genetics | Genes, X-Linked | Mitochondrial Encephalomyopathies - metabolism | Computer Simulation | Muscle, Skeletal - drug effects | Female | Electron Transport - physiology | Infant, Newborn | Apoptosis Inducing Factor - metabolism | Fibroblasts - metabolism | In Situ Nick-End Labeling | DNA, Mitochondrial - metabolism | Mitochondrial Encephalomyopathies - genetics | Nervous System Diseases - drug therapy | Mutation - genetics | Twins, Monozygotic | Apoptosis Inducing Factor - genetics | Mitochondrial Encephalomyopathies - pathology | Magnetic Resonance Imaging | Poly(ADP-ribose) Polymerases - metabolism | Pedigree | Fibroblasts - drug effects | Nervous System Diseases - etiology | Protein Conformation | Fibroblasts - cytology | Poly (ADP-Ribose) Polymerase-1 | Dietary Supplements | Staurosporine - pharmacology | Apoptosis | Riboflavin - administration & dosage | Vitamin B2 | Gene mutations | Analysis | Genetic aspects | Research | DNA binding proteins | Flavin adenine dinucleotide | Gene expression | Mitochondrial encephalomyopathies | Health aspects | Encephalitis | Genetics | Mutation | Genes | Deoxyribonucleic acid--DNA | Index Medicus | Report
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 03/2014, Volume 370, Issue 11, pp. 1065 - 1067
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2008, Volume 40, Issue 3, pp. 322 - 328
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2011, Volume 48, Issue 10, pp. 710 - 712
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 445 - U261
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 07/2019, Volume 10
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by progressive presenile dementia and bone cysts, caused by variants in either... 
NK cells | GROWTH-RETARDATION | DEMENTIA | CELL-DEFICIENCY | bone cysts | HUMAN HEALTH | neurodegeneration | DAP12 | TREM2 | IMMUNOLOGY | TYROBP | MUTATIONS | Nasu-Hakola disease (NHD) | autoantibodies | microglia | Development and progression | Dysplasia | Killer cells | Phenotype | Research | Risk factors
Journal Article
The Journal of Pathology, ISSN 0022-3417, 09/2017, Volume 243, Issue 1, pp. 9 - 15
SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin–Siris syndrome (CSS) patients and in almost all small‐cell carcinoma of the ovary... 
Coffin–Siris syndrome (CSS) | small‐cell carcinoma of the ovary hypercalcaemic type (SCCOHT) | haploinsufficiency | microphthalmia | SMARCA4/BRG1 | SWI/SNF complex | whole‐exome sequencing (WES) | chromatin remodelling factors | nonsense‐mediated mRNA decay (NMD) | intellectual disability | whole-exome sequencing (WES) | small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) | nonsense-mediated mRNA decay (NMD) | COMPLEX | Coffin-Siris syndrome (CSS) | PHENOTYPE | COMPONENTS | PATHOLOGY | ONCOLOGY | PATIENT | Immunohistochemistry | Carcinoma, Small Cell - genetics | Frameshift Mutation | Microphthalmos - genetics | Humans | Middle Aged | Male | Intellectual Disability - metabolism | Ovarian Neoplasms - genetics | Carcinoma, Small Cell - chemistry | Micrognathism - metabolism | DNA Mutational Analysis | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Genetic Predisposition to Disease | Micrognathism - genetics | Hypercalcemia - metabolism | Neck - abnormalities | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Phenotype | Hypercalcemia - diagnosis | Abnormalities, Multiple - diagnosis | Adolescent | Biomarkers, Tumor - genetics | Transcription Factors - analysis | Abnormalities, Multiple - metabolism | Nuclear Proteins - analysis | Face - abnormalities | Microphthalmos - metabolism | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Microphthalmos - diagnosis | Micrognathism - diagnosis | Hand Deformities, Congenital - metabolism | Female | Nuclear Proteins - genetics | Hypercalcemia - genetics | Ovarian Neoplasms - chemistry | Biomarkers, Tumor - analysis | Ovarian Neoplasms - diagnosis | RNA, Messenger - genetics | Codon, Nonsense | Transcription Factors - genetics | Carcinoma, Small Cell - diagnosis | Hand Deformities, Congenital - genetics | Pedigree | Intellectual Disability - diagnosis | DNA Helicases - analysis | Heterozygote | Genetic aspects | Carcinoma | Analysis | Cancer | Animal models | Nonsense mutation | mRNA turnover | Coffin-Siris syndrome | Disorders | Frameshift mutation | Reverse transcription | Immunoblotting | Nonsense-mediated mRNA decay | Patients | Chromatin remodeling | Haploinsufficiency | Polymerase chain reaction | Missense mutation | Mutation | Tumors | Microphthalmia | Index Medicus | SWI | BRG1 | Brief Definitive Report | Brief Definitive Reports | SMARCA4 | SNF complex
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 187 - 191
Journal Article