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Einrichtung
Medientyp
- Text 8
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Erscheinungsjahr
Autor/in
- von Elsner, Leonie
- Holling, Tess 3
- Kutsche, Kerstin 3
- Alawi, Malik 2
- Harms, Frederike L 2
- alle zeigen
Sprache
- Englisch 8
8 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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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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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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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
- Knapp, Karen M
- Jenkins, Danielle E
- Sullivan, Rosie
- Harms, Frederike L
- von Elsner, Leonie
- Ockeloen, Charlotte W
- de Munnik, Sonja
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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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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
- Coste de Bagneaux, Pierre
- von Elsner, Leonie
- Bierhals, Tatjana
- Campiglio, Marta
- Johannsen, Jessika
- Obermair, Gerald J
- Hempel, Maja
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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
- Girisha, Katta M
- von Elsner, Leonie
- Neethukrishna, Kausthubham
- Muranjan, Mamta
- Shukla, Anju
- Bhavani, Gandham SriLakshmi
- Nishimura, Gen
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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