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Medientyp
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Autor/in
- Holling, Tess
- Kutsche, Kerstin 5
- Alawi, Malik 4
- von Elsner, Leonie 3
- Abdalla, Ebtesam 2
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Sprache
- Englisch 8
8 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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Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
- Dahimene, Shehrazade
- von Elsner, Leonie
- Holling, Tess
- Mattas, Lauren S
- Pickard, Jess
- Lessel, Davor
- Pilch, Kjara S
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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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A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia
- Holling, Tess
- Bhavani, Gandham S
- von Elsner, Leonie
- Shah, Hitesh
- Kausthubham, Neethukrishna
- Bhattacharyya, Shaila S
- Shukla, Anju
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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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Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
- Holling, Tess
- Lisfeld, Jasmin
- Johannsen, Jessika
- Matschke, Jakob
- Song, Feizhi
- Altmeppen, Hermann Clemens
- Kutsche, Kerstin
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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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RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
- Meyer Zum Büschenfelde, Uta
- Brandenstein, Laura Isabel
- von Elsner, Leonie
- Flato, Kristina
- Holling, Tess
- Zenker, Martin
- Rosenberger, Georg