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Journal of Human Genetics
|
November 4, 2025
Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders
Byambajav Tserenlkham, Koichiro Takayama, Dimitar P Zankov, et al.
American Journal of Health-System Pharmacy : AJHP : Official Journal of the American Society of Health-System Pharmacists
|
July 16, 2024
Implementation of an interprofessional model for the management of postpartum hypertension
Ana A Safri, Brian T Kopcza, Stacey Cohen Kaplon, et al.
Genome Biology
|
July 7, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes
Tobias Brünger, Alina Ivaniuk, Eduardo Pérez-Palma, et al.
Children (Basel, Switzerland)
|
October 27, 2022
SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy
Zahra Zhu, Elizabeth Bolt, Kyra Newmaster, et al.
Neurology
|
April 14, 2025
Deciphering the Natural History of <i>SCN8A</i>-Related Disorders
Jan H Magielski, Stacey Cohen, Michael C Kaufman, et al.
Archives of Rehabilitation Research and Clinical Translation
|
January 1, 2026
Barriers to Mobility in the ICU: Insights from Severe COVID-19 and Implications for Improving Patient Outcomes
Irene Kalbian, Andrew Delgado, Sofia Barchuk, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 22, 2025
Clinical signatures of SYNGAP1-related disorders through data integration
Jillian L McKee, Jan H Magielski, Julie Xian, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Practice-Based Insights into Adult Genetics: High Diagnostic Yield, Demographic Determinants, and Patterns of Test Utilization in Over 7,000 Patients
Jessica I Gold, Yehuda Elkaim, Stephanie Asher, et al.
Annals of Neurology
|
January 3, 2025
Phenotype Spectrum of TRPM3-Associated Disorders
Laura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Lacey Smith, Emily Bonkowski, Anna Prentice, et al.
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of 4
Search research articles
Search
Showing results (11-20 of 31) with videos related to
Sort By:
Page
of 4
Journal of Human Genetics
|
November 4, 2025
Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders
Byambajav Tserenlkham, Koichiro Takayama, Dimitar P Zankov, et al.
American Journal of Health-System Pharmacy : AJHP : Official Journal of the American Society of Health-System Pharmacists
|
July 16, 2024
Implementation of an interprofessional model for the management of postpartum hypertension
Ana A Safri, Brian T Kopcza, Stacey Cohen Kaplon, et al.
Genome Biology
|
July 7, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes
Tobias Brünger, Alina Ivaniuk, Eduardo Pérez-Palma, et al.
Children (Basel, Switzerland)
|
October 27, 2022
SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy
Zahra Zhu, Elizabeth Bolt, Kyra Newmaster, et al.
Neurology
|
April 14, 2025
Deciphering the Natural History of <i>SCN8A</i>-Related Disorders
Jan H Magielski, Stacey Cohen, Michael C Kaufman, et al.
Archives of Rehabilitation Research and Clinical Translation
|
January 1, 2026
Barriers to Mobility in the ICU: Insights from Severe COVID-19 and Implications for Improving Patient Outcomes
Irene Kalbian, Andrew Delgado, Sofia Barchuk, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 22, 2025
Clinical signatures of SYNGAP1-related disorders through data integration
Jillian L McKee, Jan H Magielski, Julie Xian, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Practice-Based Insights into Adult Genetics: High Diagnostic Yield, Demographic Determinants, and Patterns of Test Utilization in Over 7,000 Patients
Jessica I Gold, Yehuda Elkaim, Stephanie Asher, et al.
Annals of Neurology
|
January 3, 2025
Phenotype Spectrum of TRPM3-Associated Disorders
Laura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Lacey Smith, Emily Bonkowski, Anna Prentice, et al.
Page
of 4