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Journal of Human Genetics
|
January 27, 2021
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease
Monis Bilal Shamsi, Mohamed Saleh, Makki Almuntashri, et al.
Clinical Genetics
|
October 14, 2024
ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder
Naif A M Almontashiri, Essa Alharby, Mohammed Saleh, et al.
Clinical Genetics
|
January 26, 2021
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes
Fatima M Al-Fadhli, Manal Afqi, Mona Hamza Sairafi, et al.
Journal of Human Genetics
|
August 8, 2020
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin
Hamoud Alhebbi, Abdul Ali Peer-Zada, Abdulrahman A Al-Hussaini, et al.
Human Molecular Genetics
|
October 10, 2023
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish
Christopher J Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2020
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
Essa Alharby, Eissa A Faqeih, Mohammed Saleh, et al.
Research Square
|
February 27, 2026
Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy
Keri-Lyn Kozul, Ali AlAsmari, Essa Alharby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 19, 2022
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
Eissa A Faqeih, Malak Ali Alghamdi, Marwa A Almahroos, et al.
Iscience
|
May 21, 2026
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis
Hirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, et al.
American Journal of Human Genetics
|
January 3, 2025
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans
Emmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, et al.
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Search research articles
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Showing results (11-20 of 20) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 20 results.
Journal of Human Genetics
|
January 27, 2021
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease
Monis Bilal Shamsi, Mohamed Saleh, Makki Almuntashri, et al.
Clinical Genetics
|
October 14, 2024
ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder
Naif A M Almontashiri, Essa Alharby, Mohammed Saleh, et al.
Clinical Genetics
|
January 26, 2021
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes
Fatima M Al-Fadhli, Manal Afqi, Mona Hamza Sairafi, et al.
Journal of Human Genetics
|
August 8, 2020
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin
Hamoud Alhebbi, Abdul Ali Peer-Zada, Abdulrahman A Al-Hussaini, et al.
Human Molecular Genetics
|
October 10, 2023
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish
Christopher J Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2020
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
Essa Alharby, Eissa A Faqeih, Mohammed Saleh, et al.
Research Square
|
February 27, 2026
Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy
Keri-Lyn Kozul, Ali AlAsmari, Essa Alharby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 19, 2022
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
Eissa A Faqeih, Malak Ali Alghamdi, Marwa A Almahroos, et al.
Iscience
|
May 21, 2026
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis
Hirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, et al.
American Journal of Human Genetics
|
January 3, 2025
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans
Emmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, et al.
Page
of 2