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Einrichtung
Medientyp
- Text 3
Karte
Erscheinungsjahr
Autor/in
- Alawi, Malik
- Nampoothiri, Sheela 3
- Yesodharan, Dhanya
- Holling, Tess 2
- Kutsche, Kerstin 2
- alle zeigen
Sprache
- Englisch 3
3 Einträge gefunden
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Novel biallelic variants expand the SLC5A6-related phenotypic spectrum
- Holling, Tess
- Nampoothiri, Sheela
- Tarhan, Bedirhan
- Schneeberger, Pauline E
- Vinayan, Kollencheri Puthenveettil
- Yesodharan, Dhanya
- Roy, Arun Grace
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Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis
- Schneeberger, Pauline Elisabeth
- Nampoothiri, Sheela
- Holling, Tess
- Yesodharan, Dhanya
- Alawi, Malik
- Knisely, A S
- Müller, Thomas
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Elsahy-Waters syndrome is caused by biallelic mutations in CDH11
- Harms, Frederike L
- Nampoothiri, Sheela
- Anazi, Shams
- Yesodharan, Dhanya
- Alawi, Malik
- Kutsche, Kerstin
- Alkuraya, Fowzan S