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

Borut Peterlin

Showing results (251-260 of 274) with videos related to

Pageof 28
Sort By:
American Journal of Human Genetics|November 26, 2008
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeAnas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, et al.
HGG Advances|July 21, 2022
Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>Divya Nair, Dong Li, Hannah Erdogan, et al.
HGG Advances|January 20, 2022
Discovery of a neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>Divya Nair, Dong Li, Hannah Erdogan, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
European Journal of Human Genetics : EJHG|April 2, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendationsWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
European Journal of Human Genetics : EJHG|October 16, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
American Journal of Human Genetics|November 26, 2018
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating DefectsNiki T Loges, Dinu Antony, Ales Maver, et al.
Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.
Birth Defects Research|March 3, 2018
Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sampleNina Ishorst, Paola Francheschelli, Anne C Böhmer, et al.
Human Genetics|October 13, 2020
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathyAshfaque Ahmed, Meng Wang, Gaber Bergant, et al.
Pageof 28

Showing results (251-260 of 274) with videos related to

Sort By:
Pageof 28
American Journal of Human Genetics|November 26, 2008
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeAnas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, et al.
HGG Advances|July 21, 2022
Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>Divya Nair, Dong Li, Hannah Erdogan, et al.
HGG Advances|January 20, 2022
Discovery of a neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>Divya Nair, Dong Li, Hannah Erdogan, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
European Journal of Human Genetics : EJHG|April 2, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendationsWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
European Journal of Human Genetics : EJHG|October 16, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
American Journal of Human Genetics|November 26, 2018
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating DefectsNiki T Loges, Dinu Antony, Ales Maver, et al.
Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.
Birth Defects Research|March 3, 2018
Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sampleNina Ishorst, Paola Francheschelli, Anne C Böhmer, et al.
Human Genetics|October 13, 2020
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathyAshfaque Ahmed, Meng Wang, Gaber Bergant, et al.
Pageof 28