Patrick Scott

2PUBLICATIONS
3CO-AUTHORS
Gene mappingNeurology and neuromuscular diseases
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Publications (2)

|Nov 27, 2019
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.

Adila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger

|Nov 27, 2018
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.

Nadia Al-Hashmi, Mohammed Mohammed, Salim Al-Kathir

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Frequent Collaborators

1 joint publications

Christian Beetz

1 joint publications

Zafer Yüksel

1 joint publications

Nana-Maria Grüning