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S Amin

Showing results (781-790 of 818) with videos related to

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Circulation|January 28, 2020
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT SyndromeArnon Adler, Valeria Novelli, Ahmad S Amin, et al.
The Journal of Investigative Dermatology|August 21, 2001
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosisE Sprecher, S Chavanas, J J DiGiovanna, et al.
American Journal of Physiology. Heart and Circulatory Physiology|November 11, 2022
Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in <i>RBM20</i> cardiomyopathyDavid C Lennermann, Mark E Pepin, Markus Grosch, et al.
Circulation Research|May 2, 2009
Genetically determined differences in sodium current characteristics modulate conduction disease severity in mice with cardiac sodium channelopathyCarol Ann Remme, Brendon P Scicluna, Arie O Verkerk, et al.
European Heart Journal|December 27, 2011
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific mannerAhmad S Amin, John R Giudicessi, Anke J Tijsen, et al.
International Journal of Molecular Sciences|October 14, 2023
Synthesis, Physicochemical Characterization using a Facile Validated HPLC Quantitation Analysis Method of 4-Chloro-phenylcarbamoyl-methyl Ciprofloxacin and Its Biological InvestigationsMostafa F Al-Hakkani, Nourhan Ahmed, Alaa A Abbas, et al.
Nature Communications|August 17, 2022
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elementsPeter H Dixon, Adam P Levine, Inês Cebola, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|March 8, 2022
Comparison of Caregiver- and Child-Reported Quality of Life in Children With Sleep-Disordered BreathingPhoebe Kuo Yu, Kaitlyn Cook, Jiayan Liu, et al.
Heart Rhythm|November 4, 2024
Long-term prognosis of patients with an SCN5A loss-of-function variant and progressive cardiac conduction disorder or Brugada syndromeFenna Tuijnenburg, Virginnio M Proost, Aurélie Thollet, et al.
Journal of the American College of Cardiology|May 20, 2023
Individualized Family Screening for Arrhythmogenic Right Ventricular CardiomyopathySteven A Muller, Alessio Gasperetti, Laurens P Bosman, et al.
Pageof 82

Showing results (781-790 of 818) with videos related to

Sort By:
Pageof 82
Circulation|January 28, 2020
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT SyndromeArnon Adler, Valeria Novelli, Ahmad S Amin, et al.
The Journal of Investigative Dermatology|August 21, 2001
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosisE Sprecher, S Chavanas, J J DiGiovanna, et al.
American Journal of Physiology. Heart and Circulatory Physiology|November 11, 2022
Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in <i>RBM20</i> cardiomyopathyDavid C Lennermann, Mark E Pepin, Markus Grosch, et al.
Circulation Research|May 2, 2009
Genetically determined differences in sodium current characteristics modulate conduction disease severity in mice with cardiac sodium channelopathyCarol Ann Remme, Brendon P Scicluna, Arie O Verkerk, et al.
European Heart Journal|December 27, 2011
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific mannerAhmad S Amin, John R Giudicessi, Anke J Tijsen, et al.
International Journal of Molecular Sciences|October 14, 2023
Synthesis, Physicochemical Characterization using a Facile Validated HPLC Quantitation Analysis Method of 4-Chloro-phenylcarbamoyl-methyl Ciprofloxacin and Its Biological InvestigationsMostafa F Al-Hakkani, Nourhan Ahmed, Alaa A Abbas, et al.
Nature Communications|August 17, 2022
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elementsPeter H Dixon, Adam P Levine, Inês Cebola, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|March 8, 2022
Comparison of Caregiver- and Child-Reported Quality of Life in Children With Sleep-Disordered BreathingPhoebe Kuo Yu, Kaitlyn Cook, Jiayan Liu, et al.
Heart Rhythm|November 4, 2024
Long-term prognosis of patients with an SCN5A loss-of-function variant and progressive cardiac conduction disorder or Brugada syndromeFenna Tuijnenburg, Virginnio M Proost, Aurélie Thollet, et al.
Journal of the American College of Cardiology|May 20, 2023
Individualized Family Screening for Arrhythmogenic Right Ventricular CardiomyopathySteven A Muller, Alessio Gasperetti, Laurens P Bosman, et al.
Pageof 82