Patrick Scott

Publication Activity (10 Years)

Years Active: 2018-2019
Publications (10 Years): 2

Top Topics

Intellectual Disability

Respiratory Tract

Top Venues

Case reports in genetics

Journal of human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Adila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, Christian Beetz, Patrick Scott, Oliver Brandau, Lia Abbasi-Moheb, Zafer Yüksel, Peter Bauer, Arndt Rolfs, Nana-Maria Grüning
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients. Journal of human genetics 65 (2) (2019)
Nadia Al-Hashmi, Mohammed Mohammed, Salim Al-Kathir, Naeema Al-Yarubi, Patrick Scott
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability. Case reports in genetics 2018 (2018)