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Amal Alhashem

Showing results (51-60 of 94) with videos related to

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American Journal of Human Genetics|October 2, 2018
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein CompositionSumaya Alkanderi, Elisa Molinari, Ranad Shaheen, et al.
Human Molecular Genetics|July 1, 2015
Identification of a novel MKS locus defined by TMEM107 mutationRanad Shaheen, Agaadir Almoisheer, Eissa Faqeih, et al.
Clinical Genetics|April 24, 2020
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotypeSalam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, et al.
Molecular Genetics and Metabolism|September 5, 2018
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significanceMohammed Almannai, Julia Wang, Hongzheng Dai, et al.
Human Genetics|March 30, 2016
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissueAnas M Alazami, Sarah M Al-Qattan, Eissa Faqeih, et al.
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.
Molecular Genetics and Metabolism|April 30, 2017
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yieldAhmed Alfares, Majid Alfadhel, Tariq Wani, et al.
Pageof 10

Showing results (51-60 of 94) with videos related to

Sort By:
Pageof 10
American Journal of Human Genetics|October 2, 2018
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein CompositionSumaya Alkanderi, Elisa Molinari, Ranad Shaheen, et al.
Human Molecular Genetics|July 1, 2015
Identification of a novel MKS locus defined by TMEM107 mutationRanad Shaheen, Agaadir Almoisheer, Eissa Faqeih, et al.
Clinical Genetics|April 24, 2020
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotypeSalam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, et al.
Molecular Genetics and Metabolism|September 5, 2018
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significanceMohammed Almannai, Julia Wang, Hongzheng Dai, et al.
Human Genetics|March 30, 2016
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissueAnas M Alazami, Sarah M Al-Qattan, Eissa Faqeih, et al.
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.
Molecular Genetics and Metabolism|April 30, 2017
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yieldAhmed Alfares, Majid Alfadhel, Tariq Wani, et al.
Pageof 10