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Andrea Shugar

Showing results (11-20 of 22) with videos related to

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Pediatric Dermatology|February 18, 2022
Value of a café-au-lait macules screening clinic: Experience from The Hospital for Sick Children in TorontoMohammed Albaghdadi, Maria Berseneva, Alexandra Pennal, et al.
American Journal of Medical Genetics. Part A|November 16, 2007
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplificationAndrea C Stachon, Berivan Baskin, Adam C Smith, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCREmily Spencer, Julia Davis, Fady Mikhail, et al.
The British Journal of Dermatology|November 23, 2024
Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmentiNeta Pipko, Rachel Youjin Oh, Aiyana Kaplan, et al.
Orphanet Journal of Rare Diseases|August 18, 2025
Evaluating the relationship between caregiver depression, social support, and children's internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndromeHolly Carbyn, Abiaz Hossain, Raquel L Dias, et al.
European Journal of Psychotraumatology|May 23, 2024
The mental health and traumatic experiences of mothers of children with 22q11DSAlexandra Finless, Andrea L Rideout, Ting Xiong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliabilityRobin Z Hayeems, Stephanie Luca, Wendy J Ungar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2015
Practical guidelines for managing adults with 22q11.2 deletion syndromeWai Lun Alan Fung, Nancy J Butcher, Gregory Costain, et al.
European Journal of Human Genetics : EJHG|March 15, 2013
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defectsCorry M R Weemaes, Maarten J D van Tol, Jun Wang, et al.
NPJ Genomic Medicine|June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Pediatric Dermatology|February 18, 2022
Value of a café-au-lait macules screening clinic: Experience from The Hospital for Sick Children in TorontoMohammed Albaghdadi, Maria Berseneva, Alexandra Pennal, et al.
American Journal of Medical Genetics. Part A|November 16, 2007
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplificationAndrea C Stachon, Berivan Baskin, Adam C Smith, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCREmily Spencer, Julia Davis, Fady Mikhail, et al.
The British Journal of Dermatology|November 23, 2024
Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmentiNeta Pipko, Rachel Youjin Oh, Aiyana Kaplan, et al.
Orphanet Journal of Rare Diseases|August 18, 2025
Evaluating the relationship between caregiver depression, social support, and children's internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndromeHolly Carbyn, Abiaz Hossain, Raquel L Dias, et al.
European Journal of Psychotraumatology|May 23, 2024
The mental health and traumatic experiences of mothers of children with 22q11DSAlexandra Finless, Andrea L Rideout, Ting Xiong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliabilityRobin Z Hayeems, Stephanie Luca, Wendy J Ungar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2015
Practical guidelines for managing adults with 22q11.2 deletion syndromeWai Lun Alan Fung, Nancy J Butcher, Gregory Costain, et al.
European Journal of Human Genetics : EJHG|March 15, 2013
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defectsCorry M R Weemaes, Maarten J D van Tol, Jun Wang, et al.
NPJ Genomic Medicine|June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.
Pageof 3