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Corneal dystrophy (gene panel)
Corneal dystrophy - UGent
Centrum Medische Genetica - UZ Gent
Transthyretine amyloïdose
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centrum Medische Genetica - UZ Gent
Primary ciliary dyskinesia (PCD) Heterotaxyies (gene panel)
Heterotaxie PCD - UGent
Centrum Medische Genetica - UZ Gent
Skeletal dysplasia (gene panel)
Skeletal dysplasia - UGent
Centrum Medische Genetica - UZ Gent
Nanophthalmos
MFRP
,
PRSS56
Nanophthalmos
Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)
Paternal uniparental disomy of chromosome 7
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
,
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
,
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Maternal uniparental disomy of chromosome 16
Centrum Medische Genetica - UZ Gent
BAP1-tumor predisposition syndrome
BAP1
BAP1-related tumor predisposition syndrome
Centrum Medische Genetica - UZ Gent
Familial cancer predisposition (gene panel)
Hereditary cancer predisposition - UGent
Centrum Medische Genetica - UZ Gent
Amyotrophic Lateral Sclerosis (ALS) (gene panel)
Amyotrophic Lateral Sclerosis (ALS) - UGent
Amyotrophic lateral sclerosis
,
Juvenile amyotrophic lateral sclerosis
,
Amyotrophic lateral sclerosis type 4
Centrum Medische Genetica - UZ Gent
Pediatric oncopredisposition (gene panel)
Pediatric oncopredisposition - UGent
Centrum Medische Genetica - UZ Gent
Neuropathy (gene panel)
Neuropathy panel - UGent
Centrum Medische Genetica - UZ Gent
Hepatology (gene panel)
Hepatology panel - UGent
Centrum Medische Genetica - UZ Gent
Respiratory disorders (gene panel): non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease
Respiratory Disorders panel (137 genes) - Ugent
Centrum Medische Genetica - UZ Gent
Arrhytmogenic cardiopathy
Arrhytmogenic cardiopathy - UGent
Centrum Medische Genetica - UZ Gent
Dilated cardiomyopathy
Dilated cardiomyopathy - UGent
Centrum Medische Genetica - UZ Gent
VEXAS-syndrome
UBA1
VEXAS syndrome
Centrum Medische Genetica - UZ Gent
Supravalvular aortic stenosis
ELN
Centrum Medische Genetica - UZ Gent
Hirschsprung disease
Hirschsprung disease - Ugent
Hirschsprung disease
Centrum Medische Genetica - UZ Gent
Small cell carcinoma of the ovary
SMARCA4
Small cell carcinoma of the ovary
Centrum Medische Genetica - UZ Gent
Fertilisation failure-oocyte maturation arrest-embryonic arrest (gene panel)
Subfertility, infertility and gamete malfunction - UGent
Centrum Medische Genetica - UZ Gent
Pagination
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