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Ingrid Bader

3PUBLICATIONS
8CO-AUTHORS
Genetic immunologyMedical devicesNanoelectronics
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Journal

Publications (3)

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|Jul 19, 2022
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.

Ingrid Bader, M Freilinger, F Landauer

|Jan 19, 2022
Biallelic <i>BUB1</i> mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.

Sara Carvalhal, Ingrid Bader, Martin A Rooimans

|Jul 24, 2020
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.

Ingrid Bader, Nina McTiernan, Christine Darbakk

Pageof 1

Frequent Collaborators

1 joint publications

Sara Carvalhal

1 joint publications

René G Feichtinger

1 joint publications

Michael R Speicher

1 joint publications

Alexandra Tavares

1 joint publications

Johannes A Mayr

1 joint publications

Rob M F Wolthuis

1 joint publications

Raquel A Oliveira

1 joint publications

Job de Lange

Frequent Collaborators

1 joint publications

Sara Carvalhal

1 joint publications

René G Feichtinger

1 joint publications

Michael R Speicher

1 joint publications

Alexandra Tavares

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