Deborah Morris-Rosendahl
10PUBLICATIONS
77CO-AUTHORS
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Publications (10)
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|Dec 28, 2024
Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.Niamh R Wilkinson, Elena Cervi, Bart Wagner
|Apr 11, 2024
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.Andrew Fleming, Miranda Galey, Lizi Briggs
|Jan 11, 2024
Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.Kinshuk Jain, Sarah C McCarley, Ghazel Mukhtar
|Jul 13, 2023
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.Jesse B Hayesmoore, Zahurul A Bhuiyan, Domenico A Coviello
|Jun 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.Camille Engel, Stéphanie Valence, Geoffroy Delplancq
|Jan 04, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh
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Frequent Collaborators
2 joint publications
Matthew Edwards
2 joint publications
Vincenzo Salpietro
2 joint publications
Pasquale Striano
2 joint publications
Marie-Coralie Cornet
1 joint publications
Fleur S van Dijk
1 joint publications
Domenico A Coviello
1 joint publications
Maria Iascone
1 joint publications
Kate L Thomson
1 joint publications
Kinshuk Jain
1 joint publications
Ghazel Mukhtar
