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Amal AlHashem

Showing results (41-50 of 86) with videos related to

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Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.
Human Genetics|May 6, 2020
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesiaHanan E Shamseldin, Ibrahim Al Mogarri, Mansour M Alqwaiee, et al.
European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.
Risk Management and Healthcare Policy|November 10, 2025
The Saudi National Policy and Protocol for Epidermolysis BullosaAshjan Alheggi, Amal Alhashem, Hind Mohammad H Alshihry, et al.
Hepatology (Baltimore, Md.)|October 10, 2019
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in HumansRanad Shaheen, Saud Alsahli, Nour Ewida, et al.
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.
Pageof 9

Showing results (41-50 of 86) with videos related to

Sort By:
Pageof 9
Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.
Human Genetics|May 6, 2020
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesiaHanan E Shamseldin, Ibrahim Al Mogarri, Mansour M Alqwaiee, et al.
European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.
Risk Management and Healthcare Policy|November 10, 2025
The Saudi National Policy and Protocol for Epidermolysis BullosaAshjan Alheggi, Amal Alhashem, Hind Mohammad H Alshihry, et al.
Hepatology (Baltimore, Md.)|October 10, 2019
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in HumansRanad Shaheen, Saud Alsahli, Nour Ewida, et al.
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.
Pageof 9