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Amal AlHashem

Showing results (71-80 of 86) with videos related to

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Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
Clinical Genetics|December 19, 2018
The many faces of peroxisomal disorders: Lessons from a large Arab cohortJumanah Alshenaifi, Nour Ewida, Shams Anazi, et al.
Genome Medicine|September 30, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patientsKhadijah Bakur, Halima Hamid, Bader Alhaddad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Genomic and phenotypic delineation of congenital microcephalyRanad Shaheen, Sateesh Maddirevula, Nour Ewida, et al.
American Journal of Human Genetics|July 13, 2022
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Thomas J O'Brien, Maha S Zaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disordersEva Berger, Robin-Tobias Jauss, Judith D Ranells, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2018
Autozygome and high throughput confirmation of disease genes candidacySateesh Maddirevula, Fatema Alzahrani, Mohammed Al-Owain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
Pageof 9

Showing results (71-80 of 86) with videos related to

Sort By:
Pageof 9
Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
Clinical Genetics|December 19, 2018
The many faces of peroxisomal disorders: Lessons from a large Arab cohortJumanah Alshenaifi, Nour Ewida, Shams Anazi, et al.
Genome Medicine|September 30, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patientsKhadijah Bakur, Halima Hamid, Bader Alhaddad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Genomic and phenotypic delineation of congenital microcephalyRanad Shaheen, Sateesh Maddirevula, Nour Ewida, et al.
American Journal of Human Genetics|July 13, 2022
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Thomas J O'Brien, Maha S Zaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disordersEva Berger, Robin-Tobias Jauss, Judith D Ranells, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2018
Autozygome and high throughput confirmation of disease genes candidacySateesh Maddirevula, Fatema Alzahrani, Mohammed Al-Owain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
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