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Journal of Medical Genetics
|
May 21, 2020
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
Samuel W Baker, Kelly A Duffy, Jennifer Richards-Yutz, et al.
Pediatric Blood & Cancer
|
September 24, 2024
Atypical presentations of RECQL4-related syndromes
Liron D Grossman, Sarah Baldino, Kristin Zelley, et al.
Genes
|
November 27, 2021
Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith-Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population
Kelly A Duffy, Kelly D Getz, Evan R Hathaway, et al.
Plos Genetics
|
January 10, 2019
Allele-specific RNA imaging shows that allelic imbalances can arise in tissues through transcriptional bursting
Orsolya Symmons, Marcello Chang, Ian A Mellis, et al.
Plastic and Reconstructive Surgery
|
March 30, 2020
The Utility of Early Tongue Reduction Surgery for Macroglossia in Beckwith-Wiedemann Syndrome
Jennifer L Cohen, Christopher M Cielo, Jonida Kupa, et al.
Anesthesia and Analgesia
|
April 22, 2021
The Prevalence of Difficult Airway in Children With Beckwith-Wiedemann Syndrome: A Retrospective Cohort Study
Luis Sequera-Ramos, Kelly A Duffy, John E Fiadjoe, et al.
Urology
|
February 13, 2021
The following 3 cases were presented at the 2020 virtual PUOWG conferenceLate Presentation of Wilms Tumor in a Patient with Hemihypertrophy after Normal Screening
Katherine M Fischer, Sameer Mittal, Christopher J Long, et al.
Pediatric Dermatology
|
February 19, 2019
Pediatric chondrodermatitis nodularis helicis (CNH) in a child with Beckwith-Wiedemann syndrome (BWS)
William C Fix, Christine Cornejo, Kelly A Duffy, et al.
American Journal of Medical Genetics. Part A
|
February 6, 2019
Beckwith-Wiedemann syndrome in diverse populations
Kelly A Duffy, Brian J Sajorda, Alice C Yu, et al.
Urology
|
September 11, 2016
Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management
Carmen C Tong, Kelly A Duffy, David I Chu, et al.
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of 12
Search research articles
Search
Showing results (41-50 of 117) with videos related to
Sort By:
Page
of 12
Journal of Medical Genetics
|
May 21, 2020
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
Samuel W Baker, Kelly A Duffy, Jennifer Richards-Yutz, et al.
Pediatric Blood & Cancer
|
September 24, 2024
Atypical presentations of RECQL4-related syndromes
Liron D Grossman, Sarah Baldino, Kristin Zelley, et al.
Genes
|
November 27, 2021
Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith-Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population
Kelly A Duffy, Kelly D Getz, Evan R Hathaway, et al.
Plos Genetics
|
January 10, 2019
Allele-specific RNA imaging shows that allelic imbalances can arise in tissues through transcriptional bursting
Orsolya Symmons, Marcello Chang, Ian A Mellis, et al.
Plastic and Reconstructive Surgery
|
March 30, 2020
The Utility of Early Tongue Reduction Surgery for Macroglossia in Beckwith-Wiedemann Syndrome
Jennifer L Cohen, Christopher M Cielo, Jonida Kupa, et al.
Anesthesia and Analgesia
|
April 22, 2021
The Prevalence of Difficult Airway in Children With Beckwith-Wiedemann Syndrome: A Retrospective Cohort Study
Luis Sequera-Ramos, Kelly A Duffy, John E Fiadjoe, et al.
Urology
|
February 13, 2021
The following 3 cases were presented at the 2020 virtual PUOWG conferenceLate Presentation of Wilms Tumor in a Patient with Hemihypertrophy after Normal Screening
Katherine M Fischer, Sameer Mittal, Christopher J Long, et al.
Pediatric Dermatology
|
February 19, 2019
Pediatric chondrodermatitis nodularis helicis (CNH) in a child with Beckwith-Wiedemann syndrome (BWS)
William C Fix, Christine Cornejo, Kelly A Duffy, et al.
American Journal of Medical Genetics. Part A
|
February 6, 2019
Beckwith-Wiedemann syndrome in diverse populations
Kelly A Duffy, Brian J Sajorda, Alice C Yu, et al.
Urology
|
September 11, 2016
Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management
Carmen C Tong, Kelly A Duffy, David I Chu, et al.
Page
of 12