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Marianne Rohrbach

6PUBLICATIONS

16CO-AUTHORS

Medical genetics (excl. cancer genetics)Adolescent healthNeonatologyOptical technologyCardiovascular medicine and haematology not elsewhere classified

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Publications (6)

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|Feb 17, 2025

Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.

Olivia Abegglen, Shajanth Srikantharupan, Kathrin Zotter

|Jan 30, 2025

[Pediatrics. Diagnosis of generalized joint hypermobility in children].

Aline Bregou, Luisa Bonafé, Marianne Rohrbach

|Jul 20, 2023

Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.

Jenny Avarappattu, Ariana Gaspert, Giuseppina Spartà

|Aug 27, 2021

Etiology of Carpal Tunnel Syndrome in a Large Cohort of Children.

Christina T Rüsch, Ursula Knirsch, Daniel M Weber

|Jan 09, 2021

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.

Patricia Haug, Samuel Koller, Jordi Maggi

|Nov 17, 2019

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel <i>TNXB</i> Variant.

Daisy Rymen, Marco Ritelli, Nicoletta Zoppi

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Frequent Collaborators

1 joint publications

Marco Ritelli

1 joint publications

Nicoletta Zoppi

1 joint publications

Cecilia Giunta

1 joint publications

Marina Colombi

1 joint publications

Patricia Haug

1 joint publications

Samuel Koller

1 joint publications

Jordi Maggi

1 joint publications

Christina Gerth-Kahlert

1 joint publications

Wolfgang Berger

1 joint publications

Christina T Rüsch

Frequent Collaborators

1 joint publications

Marco Ritelli

1 joint publications

Nicoletta Zoppi

1 joint publications

Cecilia Giunta

1 joint publications

Marina Colombi

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