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American Journal of Medical Genetics. Part A
|
September 12, 2023
Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy
Sahar Tulbah, Nadiah Alruwaili, Amal Alhashem, et al.
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society
|
December 29, 2023
Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series
Enam Danish, Amal Alhashem, Reham Aljehani, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2025
Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum
Amal AlHashem, Hanan AlQudairy, Jana Raed, et al.
Clinical Genetics
|
August 18, 2021
Molecular autopsy by proxy in preconception counseling
Malak Ali Alghamdi, Ameinah Alrasheedi, Esra Alghamdi, et al.
Genes
|
November 27, 2024
<i>ANKS6</i> Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases
Lama S Almohlesy, Faiqa Imtiaz, Maha Tulbah, et al.
The Application of Clinical Genetics
|
November 3, 2025
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future
Majid Alfadhel, Amal AlHashem, Wesam Kurdi, et al.
Clinical Genetics
|
February 28, 2024
A founder variant expands the phenotype of WNT7B-related PDAC syndrome
Lama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, et al.
American Journal of Medical Genetics. Part A
|
July 21, 2022
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome
Ruqaiah Altassan, Ahmad Qudair, Riyadh Alokaili, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 13, 2023
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions
Ana Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 26, 2018
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants
Sateesh Maddirevula, Hamoud Alhebbi, Awad Alqahtani, et al.
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of 10
Search research articles
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Showing results (31-40 of 94) with videos related to
Sort By:
Page
of 10
American Journal of Medical Genetics. Part A
|
September 12, 2023
Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy
Sahar Tulbah, Nadiah Alruwaili, Amal Alhashem, et al.
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society
|
December 29, 2023
Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series
Enam Danish, Amal Alhashem, Reham Aljehani, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2025
Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum
Amal AlHashem, Hanan AlQudairy, Jana Raed, et al.
Clinical Genetics
|
August 18, 2021
Molecular autopsy by proxy in preconception counseling
Malak Ali Alghamdi, Ameinah Alrasheedi, Esra Alghamdi, et al.
Genes
|
November 27, 2024
<i>ANKS6</i> Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases
Lama S Almohlesy, Faiqa Imtiaz, Maha Tulbah, et al.
The Application of Clinical Genetics
|
November 3, 2025
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future
Majid Alfadhel, Amal AlHashem, Wesam Kurdi, et al.
Clinical Genetics
|
February 28, 2024
A founder variant expands the phenotype of WNT7B-related PDAC syndrome
Lama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, et al.
American Journal of Medical Genetics. Part A
|
July 21, 2022
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome
Ruqaiah Altassan, Ahmad Qudair, Riyadh Alokaili, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 13, 2023
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions
Ana Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 26, 2018
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants
Sateesh Maddirevula, Hamoud Alhebbi, Awad Alqahtani, et al.
Page
of 10