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Brahim Tabarki

Showing results (91-100 of 99) with videos related to

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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.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, 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.
Molecular Genetics and Metabolism|July 15, 2023
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changesNastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, 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.
Molecular Genetics and Metabolism|June 22, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changesNastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, et al.
Annals of Neurology|April 17, 2026
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical ProfilesJana Domínguez-Carral, Ana María Domínguez Cobo, Sol Balsells, et al.
Human Genetics|June 11, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomesDorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, et al.
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Showing results (91-100 of 99) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 99 results.
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.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, 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.
Molecular Genetics and Metabolism|July 15, 2023
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changesNastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, 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.
Molecular Genetics and Metabolism|June 22, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changesNastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, et al.
Annals of Neurology|April 17, 2026
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical ProfilesJana Domínguez-Carral, Ana María Domínguez Cobo, Sol Balsells, et al.
Human Genetics|June 11, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomesDorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, et al.
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