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Publications by authors named "Laura Ebner"

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Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Laura Ebner

Brain· June 2025


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Transition-to-home arrangements for very preterm infants and related parental needs at perinatal centres in Austria and Switzerland: a cross-sectional multicentred study.
Laura Ebner, Lea Buehrer, Simone Kistler, Ulla Jochumsen, Ulrike Held

BMJ Paediatr Open· January 2025


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Transition to home after very preterm birth: improving outcomes of children and their families-a systematic review protocol.
Vivienne Engel, Valentina Mauron-Papadimitriou, Lea Bührer, Laura Ebner, Lena Keller

BMJ Open· December 2024


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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.
Melanie T Achleitner, Judith J M Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou

Metabolites· November 2023


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