Associated Papers
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S3__MITNGS_S3_
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Evolutionary history of human colitis-associated colorectal cancer.
Baker AM et al.
Gut, 2019
29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC04
Retinal structure, function, and molecular pathologic features in gyrate atrophy.
Sergouniotis PI et al.
Ophthalmology, 2012
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
Ohkubo Y et al.
The Tohoku Journal of Experimental Medicine, 2005
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Cleary MA et al.
Journal of Inherited Metabolic Disease, 2005
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