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Amal Alhashem

Showing results (61-70 of 94) with videos related to

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European Journal of Human Genetics : EJHG|November 17, 2016
Clinical exome sequencing: results from 2819 samples reflecting 1000 familiesDaniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, et al.
Frontiers in Pediatrics|May 31, 2021
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic DataMajid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, et al.
Frontiers in Genetics|January 18, 2021
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An UpdateSateesh Maddirevula, Hanan E Shamseldin, Amy Sirr, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Molecular autopsy in maternal-fetal medicineHanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, et al.
Circulation. Genomic and Precision Medicine|September 2, 2020
Categorized Genetic Analysis in Childhood-Onset CardiomyopathyZuhair N Al-Hassnan, Abdulrahman Almesned, Sahar Tulbah, et al.
American Journal of Human Genetics|March 26, 2026
Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobilityLama Alabdi, Abdullah Sezer, Fatema Alzahrani, et al.
European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Genome Biology|December 31, 2015
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeAnna A W M Sanders, Erik de Vrieze, Anas M Alazami, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Pageof 10

Showing results (61-70 of 94) with videos related to

Sort By:
Pageof 10
European Journal of Human Genetics : EJHG|November 17, 2016
Clinical exome sequencing: results from 2819 samples reflecting 1000 familiesDaniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, et al.
Frontiers in Pediatrics|May 31, 2021
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic DataMajid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, et al.
Frontiers in Genetics|January 18, 2021
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An UpdateSateesh Maddirevula, Hanan E Shamseldin, Amy Sirr, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Molecular autopsy in maternal-fetal medicineHanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, et al.
Circulation. Genomic and Precision Medicine|September 2, 2020
Categorized Genetic Analysis in Childhood-Onset CardiomyopathyZuhair N Al-Hassnan, Abdulrahman Almesned, Sahar Tulbah, et al.
American Journal of Human Genetics|March 26, 2026
Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobilityLama Alabdi, Abdullah Sezer, Fatema Alzahrani, et al.
European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Genome Biology|December 31, 2015
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeAnna A W M Sanders, Erik de Vrieze, Anas M Alazami, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Pageof 10