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Einrichtung
Medientyp
- Text 4
Karte
Erscheinungsjahr
Autor/in
- Alawi, Malik
- Holling, Tess
- Kutsche, Kerstin 3
- Abdalla, Ebtesam 2
- Nampoothiri, Sheela 2
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Sprache
- Englisch 4
4 Einträge gefunden
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Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature
- Abdelrazek, Ibrahim M.
- Holling, Tess
- Harms, Frederike Leonie
- Alawi, Malik
- Omar, Tarek
- Abdalla, Ebtesam
- Kutsche, Kerstin
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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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Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel
- Bauer, Christiane K
- Holling, Tess
- Horn, Denise
- Laço, Mário Nôro
- Abdalla, Ebtesam
- Omar, Omneya Magdy
- Alawi, Malik
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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