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Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes, mitochondrial (hot spot mutation - m.3243A>G, MTTL1 (tRNA-Leu) )
MT-TL1
MELAS
Centrum Medische Genetica - UZ Antwerpen
Maternally inherited deafness
MT-TS1
Rare mitochondrial non-syndromic sensorineural deafness
,
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (full sequencing)
MT-TL1
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Maternally-inherited diabetes and deafness / Mitochondrial myopathy with reversible cytochrome C oxidase deficiency / mitochondrial tRNA glutamic acid
MT-TE
Maternally-inherited diabetes and deafness
,
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Netherton syndrome (SPINK5 gene)
SPINK5
Netherton syndrome
Centrum Medische Genetica - UZ Brussel VUB
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
Alport syndrome
,
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Nephrotic syndrome - steroid resistant
COQ8B
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Centre de Génétique Humaine - CHU Sart-Tilman
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