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Georgia Pitsava

Showing results (21-30 of 24) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
Birth Defects Research|March 11, 2022
Exome sequencing identifies variants in infants with sacral agenesisGeorgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
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Showing results (21-30 of 24) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 24 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
Birth Defects Research|March 11, 2022
Exome sequencing identifies variants in infants with sacral agenesisGeorgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Pageof 3