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Brahim Tabarki

Showing results (81-90 of 99) with videos related to

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Human Genetics|November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, 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.
Epilepsia|March 14, 2020
KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric casesFelippe Borlot, Ahmed Abushama, Nadine Morrison-Levy, et al.
Genome Biology|December 31, 2015
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeAnna A W M Sanders, Erik de Vrieze, Anas M Alazami, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Genome Biology|November 30, 2016
Characterizing the morbid genome of ciliopathiesRanad Shaheen, Katarzyna Szymanska, Basudha Basu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Human Genetics|September 24, 2017
Expanding the genetic heterogeneity of intellectual disabilityShams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
Human Genetics|December 31, 2017
Correction to: Expanding the genetic heterogeneity of intellectual disabilityShams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
Pageof 10

Showing results (81-90 of 99) with videos related to

Sort By:
Pageof 10
Human Genetics|November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, 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.
Epilepsia|March 14, 2020
KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric casesFelippe Borlot, Ahmed Abushama, Nadine Morrison-Levy, et al.
Genome Biology|December 31, 2015
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeAnna A W M Sanders, Erik de Vrieze, Anas M Alazami, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Genome Biology|November 30, 2016
Characterizing the morbid genome of ciliopathiesRanad Shaheen, Katarzyna Szymanska, Basudha Basu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Human Genetics|September 24, 2017
Expanding the genetic heterogeneity of intellectual disabilityShams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
Human Genetics|December 31, 2017
Correction to: Expanding the genetic heterogeneity of intellectual disabilityShams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
Pageof 10