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Medientyp
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Autor/in
- Nampoothiri, Sheela
- Kutsche, Kerstin 4
- Yesodharan, Dhanya 4
- Alawi, Malik 3
- Holling, Tess 2
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Sprache
- Englisch 7
7 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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Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
- Tibbe, Debora
- Ferle, Pia
- Krisp, Christoph
- Nampoothiri, Sheela
- Mirzaa, Ghayda
- Assaf, Melissa
- Parikh, Sumit
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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
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Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum
- Yesodharan, Dhanya
- Büschenfelde, Uta Meyer Zum
- Kutsche, Kerstin
- Mohandas Nair, K
- Nampoothiri, Sheela
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Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry
- Saha, Bidisha
- Lessel, Davor
- Nampoothiri, Sheela
- Rao, Anuradha S
- Hisama, Fuki M
- Peter, Dincy
- Bennett, Chris