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Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 503 - 506
Axial spondylometaphyseal dysplasia (axial SMD) is a unique form of SMD characterized by dysplasia of axial skeleton and retinal dystrophy. Recently, C21orf2... 
MAJEWSKI | GENE | POLYCYSTIC KIDNEY-DISEASE | GENETICS & HEREDITY | IDENTIFICATION | PRENATAL-DIAGNOSIS | FAMILY | Proteins - genetics | Osteochondrodysplasias - genetics | Genetic Association Studies | Pedigree | Humans | Male | Mutation | NIMA-Related Kinase 1 - genetics | Child
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 08/2019, Volume 86, Issue 2, pp. 193 - 202
Objective Cytochrome c oxidase (COX) deficiency is a major mitochondrial respiratory chain defect that has vast genetic and phenotypic heterogeneity. This... 
MITOCHONDRIAL-DNA DEPLETION | COMPLEXES | GENES | MUTATIONS | MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | SUBUNIT | Cytochrome | Heart | Signs and symptoms | Cardiac muscle | Cardiomyopathy | Oxidase | Organs | Cytochrome-c oxidase | Muscles | Chains | Skeletal muscle | Heterogeneity | Musculoskeletal system | Mitochondria | Hypotonia | Enzymatic activity | Cytochromes | Electron transport | Assembly | Myopathy
Journal Article
Human Mutation, ISSN 1059-7794, 03/2017, Volume 38, Issue 3, pp. 317 - 323
Journal Article
Cell Reports, ISSN 2211-1247, 02/2018, Volume 22, Issue 6, pp. 1473 - 1483
Recent proteome analyses have provided a comprehensive overview of various posttranslational modifications (PTMs); however, PTMs involving protein... 
EWS | hnRNP | TAF15 | PAD4 | SNP | FUS | methylation | protein aggregation | ALS | citrulline | RHEUMATOID-ARTHRITIS | TDP-43 | DISEASE | GENES | DEIMINASE 4 | AMYOTROPHIC-LATERAL-SCLEROSIS | ARGININE METHYLATION | MUTATIONS | FRONTOTEMPORAL LOBAR DEGENERATION | RESIDUES | CELL BIOLOGY
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 7, pp. 1629 - 1638
Purpose: The diagnostic rate for Mendelian diseases by exome sequencing (ES) is typically 20-40%. The low rate is partly because ES misses deep-intronic or... 
RNA sequencing | nemaline myopathy | exome sequencing | NEB | deep intron | GENETIC-VARIATION | EXOME | GENETICS & HEREDITY | LEADS | DEEP INTRONIC MUTATION
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 02/2012, Volume 83, Issue 2, pp. 233 - 235
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3, p. e0150555
Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We... 
MESSENGER-RNA | GENE | NOSOLOGY | SERVER | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | ATDC5 | CLASSIFICATION | CELL-LINE | I-TASSER | PREDICTION | Genetic Diseases, Inborn - diagnostic imaging | Retina - metabolism | Cartilage - pathology | Humans | Gene Expression Regulation | Genetic Diseases, Inborn - genetics | Child, Preschool | Male | Cartilage - metabolism | Proteins - genetics | Radiography | Young Adult | Cell Differentiation - genetics | Phenotype | Osteochondrodysplasias - genetics | Proteins - metabolism | Adolescent | Female | Genetic Diseases, Inborn - metabolism | Osteochondrodysplasias - diagnostic imaging | Mutation | Child | Retina - pathology | Osteochondrodysplasias - metabolism | Physiological aspects | Causes of | Dysplasia | Genetic aspects | Research | Gene mutations | Laboratories | Retina | Bone (axial) | Spondylometaphyseal dysplasia | Proteins | Cartilage | Publishing | Military reserves | Genetics | Bones | Skeleton | Degeneration | Chondrogenesis | Bioinformatics | University graduates | Splicing | Gene expression | Ribonucleic acid--RNA | Patients | Disease control | Jeune syndrome | Children & youth | Medicine | Hospitals | Acids | Connecting rods | Chromosome 21 | Radiology | Retinal degeneration | Photoreceptors | Dystrophy | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | RNA | Ribonucleic acid
Journal Article