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American Journal of Medical Genetics. Part A
|
June 25, 2025
The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience
Aravind Viswanathan, Andrew M George, Evan R Hathaway, et al.
Case Reports in Nephrology
|
September 22, 2016
An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy
Sheena Sharma, Jennifer M Kalish, Ethan M Goldberg, et al.
Pediatric Blood & Cancer
|
October 2, 2018
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome
Alessandro Mussa, Kelly A Duffy, Diana Carli, et al.
American Journal of Medical Genetics. Part A
|
November 2, 2022
Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping
Lyle G Best, Kelly A Duffy, Andrew M George, et al.
Paediatric Respiratory Reviews
|
April 4, 2017
Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome
Christopher M Cielo, Kelly A Duffy, Aesha Vyas, et al.
Cold Spring Harbor Molecular Case Studies
|
October 26, 2021
Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2
Kelly A Duffy, Evan R Hathaway, Steven D Klein, et al.
Cancers
|
May 13, 2023
Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp)
Steven D Klein, Madison DeMarchis, Rebecca L Linn, et al.
American Journal of Medical Genetics. Part A
|
January 3, 2023
Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case report
Timothy D McElroy, Kelly A Duffy, Evan R Hathaway, et al.
Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|
March 12, 2019
Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome
Christopher M Cielo, Kelly A Duffy, Jesse A Taylor, et al.
British Journal of Cancer
|
December 23, 2023
Cancer predisposition signaling in Beckwith-Wiedemann Syndrome drives Wilms tumor development
Snehal Nirgude, Natali S Sobel Naveh, Sanam L Kavari, et al.
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Showing results (21-30 of 112) with videos related to
Sort By:
Page
of 12
American Journal of Medical Genetics. Part A
|
June 25, 2025
The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience
Aravind Viswanathan, Andrew M George, Evan R Hathaway, et al.
Case Reports in Nephrology
|
September 22, 2016
An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy
Sheena Sharma, Jennifer M Kalish, Ethan M Goldberg, et al.
Pediatric Blood & Cancer
|
October 2, 2018
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome
Alessandro Mussa, Kelly A Duffy, Diana Carli, et al.
American Journal of Medical Genetics. Part A
|
November 2, 2022
Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping
Lyle G Best, Kelly A Duffy, Andrew M George, et al.
Paediatric Respiratory Reviews
|
April 4, 2017
Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome
Christopher M Cielo, Kelly A Duffy, Aesha Vyas, et al.
Cold Spring Harbor Molecular Case Studies
|
October 26, 2021
Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2
Kelly A Duffy, Evan R Hathaway, Steven D Klein, et al.
Cancers
|
May 13, 2023
Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp)
Steven D Klein, Madison DeMarchis, Rebecca L Linn, et al.
American Journal of Medical Genetics. Part A
|
January 3, 2023
Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case report
Timothy D McElroy, Kelly A Duffy, Evan R Hathaway, et al.
Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|
March 12, 2019
Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome
Christopher M Cielo, Kelly A Duffy, Jesse A Taylor, et al.
British Journal of Cancer
|
December 23, 2023
Cancer predisposition signaling in Beckwith-Wiedemann Syndrome drives Wilms tumor development
Snehal Nirgude, Natali S Sobel Naveh, Sanam L Kavari, et al.
Page
of 12