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Amal AlHashem

Showing results (51-60 of 86) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohortRanad Shaheen, Nisha Patel, Hanan Shamseldin, et al.
American Journal of Medical Genetics. Part A|February 1, 2018
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalitiesLaila Alrakaf, Mohammed A Al-Owain, Maryam Busehail, et al.
Genome Biology|June 20, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnosticsSateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, et al.
Clinical Genetics|October 7, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy SpectrumLuba M Pardo, Javier Martini, Emir Zonic, et al.
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.
Pageof 9

Showing results (51-60 of 86) with videos related to

Sort By:
Pageof 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohortRanad Shaheen, Nisha Patel, Hanan Shamseldin, et al.
American Journal of Medical Genetics. Part A|February 1, 2018
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalitiesLaila Alrakaf, Mohammed A Al-Owain, Maryam Busehail, et al.
Genome Biology|June 20, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnosticsSateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, et al.
Clinical Genetics|October 7, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy SpectrumLuba M Pardo, Javier Martini, Emir Zonic, et al.
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.
Pageof 9