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Cilia, ISSN 2046-2530, 2016, Volume 5, Issue 1, p. 12
Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional... 
Developmental disorders | OFDS | Cilia | Proteins | Physiological aspects | Life Sciences | Human health and pathology
Journal Article
Human Mutation, ISSN 1059-7794, 12/2019, Volume 40, Issue 12, pp. 2430 - 2443
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed... 
pipeline | mtDNA | ES data | bioinformatics | Leber's optic atrophy | Deafness | Phenotypes | Nucleotide sequence | Optic neuropathy | Genomes | Mitochondrial DNA | Neuropathy | Ataxia | Diagnosis | Bioinformatics | Deoxyribonucleic acid--DNA | DNA sequencing
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2017, Volume 185, pp. 160 - 166.e1
Journal Article
Human Mutation, ISSN 1059-7794, 01/2016, Volume 37, Issue 8, pp. 755 - 764
Journal Article
Annals of Neurology, ISSN 0364-5134, 12/2015, Volume 78, Issue 6, pp. 871 - 886
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 531 - 536
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2014, Volume 51, Issue 11, pp. 724 - 736
Journal Article
Journal Article
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 825 - 830
Journal Article