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Anne Slavotinek

Showing results (81-90 of 147) with videos related to

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Clinical Genetics|September 8, 2022
Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patientsMichelle Adutwum, Anna Hurst, Ghayda Mirzaa, et al.
Birth Defects Research|November 12, 2024
Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014Danielle L Mitchell, Tiffany M Chambers, A J Agopian, et al.
Journal of Human Genetics|February 5, 2020
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesisCelia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, et al.
Pediatrics|July 20, 2023
Parent-Reported Clinical Utility of Pediatric Genomic SequencingHadley Stevens Smith, Bart S Ferket, Bruce D Gelb, et al.
American Journal of Medical Genetics. Part A|November 15, 2006
Clinical features and management issues in Mowat-Wilson syndromeMargaret P Adam, Susan Schelley, Renata Gallagher, et al.
Pediatrics|October 18, 2006
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)Joseph T C Shieh, Petra Swidler, John A Martignetti, et al.
Patient Education and Counseling|June 17, 2026
Perceptions of professional Spanish medical interpretation during genomic sequencing results sessionsAmanda M Gutierrez, Michael C Leo, Galen Joseph, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2023
Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) studyAnne Slavotinek, Hannah Prasad, Simon Outram, et al.
Frontiers in Cell and Developmental Biology|March 21, 2025
A zebrafish model of <i>crim1</i> loss of function has small and misshapen lenses with dysregulated <i>clic4</i> and <i>fgf1b</i> expressionTien Le, Stephanie Htun, Manoj Kumar Pandey, et al.
NPJ Genomic Medicine|January 3, 2024
Genetic ancestry and diagnostic yield of exome sequencing in a diverse populationYusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, et al.
Pageof 15

Showing results (81-90 of 147) with videos related to

Sort By:
Pageof 15
Clinical Genetics|September 8, 2022
Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patientsMichelle Adutwum, Anna Hurst, Ghayda Mirzaa, et al.
Birth Defects Research|November 12, 2024
Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014Danielle L Mitchell, Tiffany M Chambers, A J Agopian, et al.
Journal of Human Genetics|February 5, 2020
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesisCelia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, et al.
Pediatrics|July 20, 2023
Parent-Reported Clinical Utility of Pediatric Genomic SequencingHadley Stevens Smith, Bart S Ferket, Bruce D Gelb, et al.
American Journal of Medical Genetics. Part A|November 15, 2006
Clinical features and management issues in Mowat-Wilson syndromeMargaret P Adam, Susan Schelley, Renata Gallagher, et al.
Pediatrics|October 18, 2006
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)Joseph T C Shieh, Petra Swidler, John A Martignetti, et al.
Patient Education and Counseling|June 17, 2026
Perceptions of professional Spanish medical interpretation during genomic sequencing results sessionsAmanda M Gutierrez, Michael C Leo, Galen Joseph, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2023
Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) studyAnne Slavotinek, Hannah Prasad, Simon Outram, et al.
Frontiers in Cell and Developmental Biology|March 21, 2025
A zebrafish model of <i>crim1</i> loss of function has small and misshapen lenses with dysregulated <i>clic4</i> and <i>fgf1b</i> expressionTien Le, Stephanie Htun, Manoj Kumar Pandey, et al.
NPJ Genomic Medicine|January 3, 2024
Genetic ancestry and diagnostic yield of exome sequencing in a diverse populationYusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, et al.
Pageof 15