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Articles by A. Slavotinek | Synthical
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A. Slavotinek
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4
Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders
23 September 2021 by
J. Shieh
and
others
at
UC San Francisco
Genetic and Genomic Medicine
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
10 December 2020 by
C. KlöCkner
and
others
at
Leipzig
Genetic and Genomic Medicine
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
1 June 2020 by
A. Slavotinek
and
others
at
UC San Francisco
Genetics
Phenotypic expansion in DDX3X -- a common cause of intellectual disability in females
15 September 2018 by
Xiangru Wang
and
others
at
Baylor College of Medicine
Genetics
Topics
Genetic and Genomic Medicine
Genetics
