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Medientyp
- Text 9
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Erscheinungsjahr
Autor/in
- Schneeberger, Pauline E
- Alawi, Malik 4
- Kortüm, Fanny 3
- Kutsche, Kerstin 3
- Nayak, Shalini S 2
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Sprache
- Englisch 9
9 Einträge gefunden
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Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation
- von Elsner, Leonie
- Chai, Guoliang
- Schneeberger, Pauline E
- Harms, Frederike L
- Casar, Christian
- Qi, Minyue
- Alawi, Malik
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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 variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
- Nayak, Shalini S
- Schneeberger, Pauline E
- Patil, Siddaramappa J
- Arun, Karegowda M
- Suresh, Pujar V
- Kiran, Viralam S
- Siddaiah, Sateesh
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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
- El Ghaleb, Yousra
- Schneeberger, Pauline E
- Fernández-Quintero, Monica L
- Geisler, Stefanie M
- Pelizzari, Simone
- Polstra, Abeltje M
- van Hagen, Johanna M
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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
- Schneeberger, Pauline E
- von Elsner, Leonie
- Barker, Emma L
- Meinecke, Peter
- Marquardt, Iris
- Alawi, Malik
- Steindl, Katharina
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de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
2019 - Forschungsinformationssystem des UKE - frei zugänglich -
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
- Bauer, Christiane K
- Schneeberger, Pauline E
- Kortüm, Fanny
- Altmüller, Janine
- Santos-Simarro, Fernando
- Baker, Laura
- Keller-Ramey, Jennifer