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Showing results (151-160 of 169) with videos related to

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American Journal of Medical Genetics. Part A|July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.
Nature Medicine|June 24, 2018
Publisher Correction: Stimulation of entorhinal cortex-dentate gyrus circuitry is antidepressiveSanghee Yun, Ryan P Reynolds, Iraklis Petrof, et al.
Nature Biomedical Engineering|October 29, 2025
Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAsMadelynn N Whittaker, Lauren C Testa, Aidan Quigley, et al.
EMBO Molecular Medicine|February 15, 2023
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiencyLars Schlotawa, Karolina Tyka, Matthias Kettwig, et al.
The New England Journal of Medicine|May 13, 2026
Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector DeliveryRebecca C Ahrens-Nicklas, Chelsea Kotch, Aoife M Roche, et al.
HGG Advances|October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorderBrianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
The European Respiratory Journal|November 18, 2017
Airway microbiota across age and disease spectrum in cystic fibrosisEdith T Zemanick, Brandie D Wagner, Charles E Robertson, et al.
Nature Cardiovascular Research|January 6, 2026
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathyMichael R Murphy, Mythily Ganapathi, Esther R Rotlevi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2025
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencingCarlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, et al.
Pediatrics|June 1, 2022
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics CareKatherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, et al.
Pageof 17

Showing results (151-160 of 169) with videos related to

Sort By:
Pageof 17
American Journal of Medical Genetics. Part A|July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.
Nature Medicine|June 24, 2018
Publisher Correction: Stimulation of entorhinal cortex-dentate gyrus circuitry is antidepressiveSanghee Yun, Ryan P Reynolds, Iraklis Petrof, et al.
Nature Biomedical Engineering|October 29, 2025
Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAsMadelynn N Whittaker, Lauren C Testa, Aidan Quigley, et al.
EMBO Molecular Medicine|February 15, 2023
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiencyLars Schlotawa, Karolina Tyka, Matthias Kettwig, et al.
The New England Journal of Medicine|May 13, 2026
Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector DeliveryRebecca C Ahrens-Nicklas, Chelsea Kotch, Aoife M Roche, et al.
HGG Advances|October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorderBrianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
The European Respiratory Journal|November 18, 2017
Airway microbiota across age and disease spectrum in cystic fibrosisEdith T Zemanick, Brandie D Wagner, Charles E Robertson, et al.
Nature Cardiovascular Research|January 6, 2026
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathyMichael R Murphy, Mythily Ganapathi, Esther R Rotlevi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2025
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencingCarlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, et al.
Pediatrics|June 1, 2022
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics CareKatherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, et al.
Pageof 17