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Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 01/2018, Volume 38, Issue 1, pp. 33 - 43
Journal Article
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 09/2019, Volume 9, Issue 1, pp. 1 - 8
Nystagmus is a disorder of uncontrolled eye movement and can occur as an isolated trait (idiopathic INS, IINS) or as part of multisystem disorders such as... 
FRAMEWORK | RECESSIVE OCULAR ALBINISM | TYROSINASE | MULTIDISCIPLINARY SCIENCES | MUTATION | Neurological diseases | Next-generation sequencing | Albinism | Nucleotide sequence | Vision | Phenotyping | Nystagmus | Genetic screening | DNA sequencing
Journal Article
BMC MEDICAL GENETICS, ISSN 1471-2350, 08/2019, Volume 20, Issue 1, pp. 145 - 7
Background Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses... 
EPIDERMAL DIFFERENTIATION | Mal de Meleda | Palmoplantar keratoderma | SLURP1 | Variant | GENE-ENCODING SLURP-1 | Exome sequencing | GENETICS & HEREDITY | DSG1 | DESMOGLEIN-1 | Mutation | MUTATIONS | MELEDA | Genodermatosis | Ethics | Consent | Genes | Desmoglein 1 | Patients | Age | Deoxyribonucleic acid--DNA
Journal Article
Brain, ISSN 0006-8950, 2017, Volume 140, Issue 10, pp. e62 - e62
Journal Article
PLoS Genetics, ISSN 1553-7390, 08/2018, Volume 14, Issue 8, p. e1007504
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 657 - 662
The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in... 
DIAGNOSIS | PROTEIN | MIDBODY | BIOCHEMISTRY & MOLECULAR BIOLOGY | NONSENSE MUTATION | GENETICS & HEREDITY | Dysplasia | Embryogenesis | Cytokinesis | Hydranencephaly | Cell cycle | Potter sequence | Meckel-like | hydranencephaly | renal dysplasia | CEP55 | Meckel syndrome | whole exome sequencing
Journal Article
Journal Article
GENOME RESEARCH, ISSN 1088-9051, 07/2019, Volume 29, Issue 7, pp. 1057 - 1066
Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3 alpha (DNMT3A) are commonly associated with growth... 
OVERGROWTH SYNDROME | PROFILES | DNA METHYLATION | BROWN-RAHMAN SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | DNMT3A | ACUTE MYELOID-LEUKEMIA | DISCOVERY | ENCYCLOPEDIA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | EMBRYONIC STEM-CELLS | GENETICS & HEREDITY | AGE | Research
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 11/2019, Volume 83, Issue 6, pp. 477 - 482
Ciliopathies are a clinically and genetically heterogeneous group of disorders often exhibiting phenotypic overlap and caused by abnormalities in the structure... 
MORM | BBS | exome INPP5E | BBS5 | ciliopathy | sequencing | Genetic research | Medicine, Experimental | Medical research | Family | Genetic aspects | Health care reform | Nonsense mutation | Frameshift mutation | Retina | Population genetics | Hypogonadism | Genetic screening | Genetic counseling | Phenotyping | Retinal degeneration | Mutation | Dystrophy | Cilia | Structure-function relationships
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 06/2017, Volume 38, Issue 6, pp. 704 - 715
Journal Article
PLoS Genetics, ISSN 1553-7390, 01/2017, Volume 13, Issue 1, p. e1006470
Journal Article