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Pediatrics
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March 11, 2025
Conservative Management of Macroglossia in Beckwith-Wiedemann Syndrome
Dominic J Romeo, Connor S Wagner, Manisha Banala, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2020
Tatton-Brown-Rahman syndrome: Six individuals with novel features
Tugce B Balci, Alana Strong, Jennifer M Kalish, et al.
Epigenetics
|
December 10, 2020
Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome
Suhee Chang, Stella K Hur, Natali S Sobel Naveh, et al.
Scientific Reports
|
November 21, 2024
Extrauterine support of pre-term lambs achieves similar transcriptomic profiling to late pre-term lamb brains
Jennifer L Cohen, Felix De Bie, Angela N Viaene, et al.
American Journal of Medical Genetics. Part A
|
April 3, 2026
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
Alex F Nisbet, Sylvie A Adams, Zoe S Katz, et al.
Orphanet Journal of Rare Diseases
|
October 18, 2024
Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach
Dominic J Romeo, Andrew M George, Jonathan H Sussman, et al.
Arxiv
|
May 7, 2024
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts
Da Wu, Jingye Yang, Cong Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 22, 2025
Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Angelika L Erwin, Aya Abu El Haija, James T Bennett, et al.
Biorxiv : the Preprint Server for Biology
|
July 1, 2024
Single-nucleus multiomic analysis of Beckwith-Wiedemann syndrome liver reveals PPARA signaling enrichment and metabolic dysfunction
Snehal Nirgude, Elisia D Tichy, Zhengfeng Liu, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
June 17, 2017
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk
Anita Villani, Mary-Louise C Greer, Jennifer M Kalish, et al.
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of 12
Search research articles
Search
Showing results (71-80 of 112) with videos related to
Sort By:
Page
of 12
Pediatrics
|
March 11, 2025
Conservative Management of Macroglossia in Beckwith-Wiedemann Syndrome
Dominic J Romeo, Connor S Wagner, Manisha Banala, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2020
Tatton-Brown-Rahman syndrome: Six individuals with novel features
Tugce B Balci, Alana Strong, Jennifer M Kalish, et al.
Epigenetics
|
December 10, 2020
Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome
Suhee Chang, Stella K Hur, Natali S Sobel Naveh, et al.
Scientific Reports
|
November 21, 2024
Extrauterine support of pre-term lambs achieves similar transcriptomic profiling to late pre-term lamb brains
Jennifer L Cohen, Felix De Bie, Angela N Viaene, et al.
American Journal of Medical Genetics. Part A
|
April 3, 2026
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
Alex F Nisbet, Sylvie A Adams, Zoe S Katz, et al.
Orphanet Journal of Rare Diseases
|
October 18, 2024
Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach
Dominic J Romeo, Andrew M George, Jonathan H Sussman, et al.
Arxiv
|
May 7, 2024
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts
Da Wu, Jingye Yang, Cong Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 22, 2025
Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Angelika L Erwin, Aya Abu El Haija, James T Bennett, et al.
Biorxiv : the Preprint Server for Biology
|
July 1, 2024
Single-nucleus multiomic analysis of Beckwith-Wiedemann syndrome liver reveals PPARA signaling enrichment and metabolic dysfunction
Snehal Nirgude, Elisia D Tichy, Zhengfeng Liu, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
June 17, 2017
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk
Anita Villani, Mary-Louise C Greer, Jennifer M Kalish, et al.
Page
of 12