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Clinical Genetics
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August 19, 2014
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder
A Chaudhry, A Noor, B Degagne, et al.
American Journal of Human Genetics
|
July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
Zornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
The European Respiratory Journal
|
June 21, 2022
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis
Amelia Shoemark, Helen Griffin, Gabrielle Wheway, et al.
Science Advances
|
April 28, 2023
The genomic landscape of familial glioma
Dong-Joo Choi, Georgina Armstrong, Brittney Lozzi, et al.
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of 7
Search research articles
Search
Showing results (61-70 of 64) with videos related to
Sort By:
Page
of 7
You have reached the last page of results.
This site can display upto 64 results.
Clinical Genetics
|
August 19, 2014
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder
A Chaudhry, A Noor, B Degagne, et al.
American Journal of Human Genetics
|
July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
Zornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
The European Respiratory Journal
|
June 21, 2022
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis
Amelia Shoemark, Helen Griffin, Gabrielle Wheway, et al.
Science Advances
|
April 28, 2023
The genomic landscape of familial glioma
Dong-Joo Choi, Georgina Armstrong, Brittney Lozzi, et al.
Page
of 7