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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
PLoS Genetics, ISSN 1553-7390, 01/2017, Volume 13, Issue 1, pp. e1006470 - e1006470
Journal Article
PLoS Genetics, ISSN 1553-7390, 08/2018, Volume 14, Issue 8, pp. e1007504 - e1007504
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2014, Volume 124, Issue 7, pp. 3137 - 3146
Numerous human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderrna pigmentosum, and trichothiodystrophy, result from the mutation of... 
UV-IRRADIATION | MEDICINE, RESEARCH & EXPERIMENTAL | MUTANT MICE | RNA-SYNTHESIS | NUCLEOTIDE-EXCISION-REPAIR | XERODERMA-PIGMENTOSUM | GENE | REPLICATION FORK | COCKAYNE-SYNDROME | CANCER | XPG | Humans | Nerve Degeneration - genetics | Male | Aging, Premature - genetics | Mutation, Missense | DNA Repair-Deficiency Disorders - physiopathology | Proliferating Cell Nuclear Antigen - genetics | DNA Mutational Analysis | Protein Structure, Quaternary | Adult | Female | Child | DNA Repair-Deficiency Disorders - pathology | Recombinant Proteins - metabolism | Telangiectasis - genetics | Photosensitivity Disorders - genetics | Mutant Proteins - genetics | Models, Molecular | Recombinant Proteins - chemistry | Mutant Proteins - metabolism | Recombinant Proteins - genetics | Proliferating Cell Nuclear Antigen - chemistry | Syndrome | Hearing Loss - genetics | Dwarfism - genetics | Homozygote | Phenotype | Pedigree | Mutant Proteins - chemistry | Adolescent | Proliferating Cell Nuclear Antigen - metabolism | DNA Repair-Deficiency Disorders - genetics | Amino Acid Substitution | Chromosomes, Human, Pair 20 - genetics | Gene mutations | Genetic research | Nervous system | Degeneration | Genetic aspects | Research | Identification and classification | DNA repair | Medical research | Mutation | DNA damage | Index Medicus | Abridged Index Medicus
Journal Article
BMC medical genetics, ISSN 1471-2350, 08/2019, Volume 20, Issue 1, pp. 145 - 145
Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by... 
EPIDERMAL DIFFERENTIATION | Mal de Meleda | Palmoplantar keratoderma | SLURP1 | Variant | GENE-ENCODING SLURP-1 | Exome sequencing | GENETICS & HEREDITY | DSG1 | DESMOGLEIN-1 | Mutation | MUTATIONS | MELEDA | Index Medicus
Journal Article
Eye (London, England), ISSN 0950-222X, 04/2019, Volume 33, Issue 8, pp. 1339 - 1346
To investigate eight previously unreported Pakistani families with genetically undefined OCA for mutations in TYR. Sanger sequencing of TYR has been performed... 
OPHTHALMOLOGY | SERIES | IDENTIFICATION | TYPE-1 | Literature reviews | Phenotypes | Albinism | TYR gene | Genetic diversity | Mutation | Population genetics | Bioinformatics | Structure-function relationships | Index Medicus
Journal Article
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 2019
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
Journal Article
Brain, ISSN 0006-8950, 04/2017, Volume 140, Issue 4, pp. 940 - 952
Journal Article
Human Mutation, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1157 - 1161
Journal Article
Brain, ISSN 0006-8950, 03/2017, Volume 140, Issue 3, pp. 547 - 554
Journal Article