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Anne Slavotinek

Showing results (101-110 of 147) with videos related to

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American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.
NPJ Genomic Medicine|October 13, 2021
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disordersJoseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, et al.
NPJ Genomic Medicine|September 24, 2021
Application of full-genome analysis to diagnose rare monogenic disordersJoseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
Human Molecular Genetics|June 7, 2020
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weaknessAnne Slavotinek, Doriana Misceo, Stephanie Htun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2025
Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of resultsBarbara B Biesecker, Sara L Ackerman, Kyle B Brothers, et al.
European Journal of Human Genetics : EJHG|January 8, 2026
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformationsValentina Muto, Giulia Fasano, Francesca Clementina Radio, et al.
Human Genetics|May 6, 2026
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
The Journal of Investigative Dermatology|August 12, 2006
ABCA12 is the major harlequin ichthyosis geneAnna C Thomas, Tom Cullup, Elizabeth E Norgett, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
A novel splice site variant in <i>DEGS1</i> leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
Pageof 15

Showing results (101-110 of 147) with videos related to

Sort By:
Pageof 15
American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.
NPJ Genomic Medicine|October 13, 2021
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disordersJoseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, et al.
NPJ Genomic Medicine|September 24, 2021
Application of full-genome analysis to diagnose rare monogenic disordersJoseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
Human Molecular Genetics|June 7, 2020
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weaknessAnne Slavotinek, Doriana Misceo, Stephanie Htun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2025
Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of resultsBarbara B Biesecker, Sara L Ackerman, Kyle B Brothers, et al.
European Journal of Human Genetics : EJHG|January 8, 2026
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformationsValentina Muto, Giulia Fasano, Francesca Clementina Radio, et al.
Human Genetics|May 6, 2026
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
The Journal of Investigative Dermatology|August 12, 2006
ABCA12 is the major harlequin ichthyosis geneAnna C Thomas, Tom Cullup, Elizabeth E Norgett, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
A novel splice site variant in <i>DEGS1</i> leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
Pageof 15