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International Journal of Pediatric Endocrinology
|
July 17, 2020
Coexistence of paternally-inherited <i>ABCC8</i> mutation and mosaic paternal uniparental disomy 11p hyperinsulinism
Joanna Yuet-Ling Tung, Sophie Hon Yu Lai, Sandy Leung Kuen Au, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 8, 2026
Determinants of Hyperinsulinism Severity in Children with Beckwith-Wiedemann Syndrome
Andrew M George, Aravind Viswanathan, Jonathan H Sussman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 1, 2019
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management
Sarah E Sheppard, Emilie Lalonde, N Scott Adzick, et al.
American Journal of Medical Genetics. Part A
|
March 28, 2013
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy
Jennifer M Kalish, Laura K Conlin, Sogol Mostoufi-Moab, et al.
Frontiers in Endocrinology
|
May 19, 2025
Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network
Tai L S Pasquini, Indraneel Banerjee, Henrik Thybo Christesen, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2018
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
Mark D Levin, Sulagna C Saitta, Karen W Gripp, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
July 5, 2017
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma
Jennifer M Kalish, Leslie Doros, Lee J Helman, et al.
American Journal of Medical Genetics. Part A
|
May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowth
Jennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
October 28, 2024
Update on Surveillance Guidelines in Emerging Wilms Tumor Predisposition Syndromes
Jack J Brzezinski, Kerri D Becktell, Gaëlle Bougeard, et al.
American Journal of Medical Genetics. Part A
|
June 28, 2013
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy
Jennifer M Kalish, Laura K Conlin, Tricia R Bhatti, et al.
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of 12
Search research articles
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Showing results (91-100 of 112) with videos related to
Sort By:
Page
of 12
International Journal of Pediatric Endocrinology
|
July 17, 2020
Coexistence of paternally-inherited <i>ABCC8</i> mutation and mosaic paternal uniparental disomy 11p hyperinsulinism
Joanna Yuet-Ling Tung, Sophie Hon Yu Lai, Sandy Leung Kuen Au, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 8, 2026
Determinants of Hyperinsulinism Severity in Children with Beckwith-Wiedemann Syndrome
Andrew M George, Aravind Viswanathan, Jonathan H Sussman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 1, 2019
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management
Sarah E Sheppard, Emilie Lalonde, N Scott Adzick, et al.
American Journal of Medical Genetics. Part A
|
March 28, 2013
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy
Jennifer M Kalish, Laura K Conlin, Sogol Mostoufi-Moab, et al.
Frontiers in Endocrinology
|
May 19, 2025
Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network
Tai L S Pasquini, Indraneel Banerjee, Henrik Thybo Christesen, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2018
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
Mark D Levin, Sulagna C Saitta, Karen W Gripp, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
July 5, 2017
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma
Jennifer M Kalish, Leslie Doros, Lee J Helman, et al.
American Journal of Medical Genetics. Part A
|
May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowth
Jennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
October 28, 2024
Update on Surveillance Guidelines in Emerging Wilms Tumor Predisposition Syndromes
Jack J Brzezinski, Kerri D Becktell, Gaëlle Bougeard, et al.
American Journal of Medical Genetics. Part A
|
June 28, 2013
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy
Jennifer M Kalish, Laura K Conlin, Tricia R Bhatti, et al.
Page
of 12