Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

L Polla

Showing results (31-40 of 43) with videos related to

Pageof 5
Sort By:
European Journal of Human Genetics : EJHG|January 27, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic settingAida M Bertoli-Avella, Mandy Radefeldt, Ruslan Al-Ali, et al.
Plos One|September 19, 2015
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersDaniel L Polla, Maria T O Cardoso, Mayara C B Silva, et al.
American Journal of Human Genetics|October 1, 2019
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and MicrocephalyElodie M Richard, Daniel L Polla, Muhammad Zaman Assir, et al.
European Journal of Human Genetics : EJHG|September 12, 2019
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish populationDaniel L Polla, Elisa Rahikkala, Michaela K Bode, et al.
European Journal of Human Genetics : EJHG|March 28, 2019
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish populationDaniel L Polla, Elisa Rahikkala, Michaela K Bode, et al.
American Journal of Human Genetics|December 12, 2018
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive BehaviorArjan P M de Brouwer, Rami Abou Jamra, Nadine Körtel, et al.
American Journal of Human Genetics|June 18, 2021
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylationDaniel L Polla, Andrew C Edmondson, Sandrine Duvet, et al.
Molecular Psychiatry|September 2, 2018
Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disabilityS Riazuddin, M Hussain, A Razzaq, et al.
Molecular Psychiatry|July 27, 2016
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disabilityS Riazuddin, M Hussain, A Razzaq, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 femalesD L Polla, E J Bhoj, J B G M Verheij, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|January 27, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic settingAida M Bertoli-Avella, Mandy Radefeldt, Ruslan Al-Ali, et al.
Plos One|September 19, 2015
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersDaniel L Polla, Maria T O Cardoso, Mayara C B Silva, et al.
American Journal of Human Genetics|October 1, 2019
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and MicrocephalyElodie M Richard, Daniel L Polla, Muhammad Zaman Assir, et al.
European Journal of Human Genetics : EJHG|September 12, 2019
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish populationDaniel L Polla, Elisa Rahikkala, Michaela K Bode, et al.
European Journal of Human Genetics : EJHG|March 28, 2019
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish populationDaniel L Polla, Elisa Rahikkala, Michaela K Bode, et al.
American Journal of Human Genetics|December 12, 2018
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive BehaviorArjan P M de Brouwer, Rami Abou Jamra, Nadine Körtel, et al.
American Journal of Human Genetics|June 18, 2021
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylationDaniel L Polla, Andrew C Edmondson, Sandrine Duvet, et al.
Molecular Psychiatry|September 2, 2018
Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disabilityS Riazuddin, M Hussain, A Razzaq, et al.
Molecular Psychiatry|July 27, 2016
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disabilityS Riazuddin, M Hussain, A Razzaq, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 femalesD L Polla, E J Bhoj, J B G M Verheij, et al.
Pageof 5