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American Journal of Medical Genetics. Part A
|
November 14, 2023
Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups
Khemika K Sudnawa, Sean Calamia, Alexa Geltzeiler, et al.
American Journal of Medical Genetics. Part A
|
November 28, 2025
A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability
Ryan Cohen, Mythily Ganapathi, Alban Ziegler, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2026
RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR
Cong Liu, Alexa Geltzeiler, Adam Afyouni, et al.
American Journal of Medical Genetics. Part A
|
March 14, 2022
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures
Rebecca Fenster, Alban Ziegler, Catherine Kentros, et al.
Journal of Medical Genetics
|
May 19, 2021
Neurodevelopmental phenotypes associated with pathogenic variants in <i>SLC6A1</i>
Ashley Kahen, Haluk Kavus, Alexa Geltzeiler, et al.
Clinical Genetics
|
July 30, 2025
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder
Khemika K Sudnawa, Alexa Geltzeiler, Cara H Kanner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 24, 2024
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder
Khemika K Sudnawa, Wenxing Li, Sean Calamia, et al.
HGG Advances
|
April 1, 2026
Loss-of-Function Variants in MARK2 Cause Neurodevelopmental Disorder
Yunseon Yang, Yoon-Kyung Shim, Noriko Miyake, et al.
HGG Advances
|
February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease Care
Shira Rockowitz, Wanqing Shao, Courtney French, et al.
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Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
American Journal of Medical Genetics. Part A
|
November 14, 2023
Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups
Khemika K Sudnawa, Sean Calamia, Alexa Geltzeiler, et al.
American Journal of Medical Genetics. Part A
|
November 28, 2025
A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability
Ryan Cohen, Mythily Ganapathi, Alban Ziegler, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2026
RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR
Cong Liu, Alexa Geltzeiler, Adam Afyouni, et al.
American Journal of Medical Genetics. Part A
|
March 14, 2022
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures
Rebecca Fenster, Alban Ziegler, Catherine Kentros, et al.
Journal of Medical Genetics
|
May 19, 2021
Neurodevelopmental phenotypes associated with pathogenic variants in <i>SLC6A1</i>
Ashley Kahen, Haluk Kavus, Alexa Geltzeiler, et al.
Clinical Genetics
|
July 30, 2025
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder
Khemika K Sudnawa, Alexa Geltzeiler, Cara H Kanner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 24, 2024
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder
Khemika K Sudnawa, Wenxing Li, Sean Calamia, et al.
HGG Advances
|
April 1, 2026
Loss-of-Function Variants in MARK2 Cause Neurodevelopmental Disorder
Yunseon Yang, Yoon-Kyung Shim, Noriko Miyake, et al.
HGG Advances
|
February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease Care
Shira Rockowitz, Wanqing Shao, Courtney French, et al.
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of 1