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Essa Alharby

Showing results (1-10 of 20) with videos related to

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BMC Medical Genetics|March 23, 2017
Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hipSulman Basit, Alia M Albalawi, Essa Alharby, et al.
Congenital Anomalies|July 11, 2017
Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2Sulman Basit, Essa Alharby, Alia M Albalawi, et al.
Clinical Genetics|December 26, 2024
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal DefectsNaif A M Almontashiri, Aziza Mushiba, Haya Alruqi, et al.
Hematology/Oncology and Stem Cell Therapy|February 18, 2021
A Novel Frameshift Mutation in the ITGB3 Gene Leading to Glanzmann's Thrombasthenia in a Saudi Arabian FamilyAsma Alharbi, Jamil A Hashmi, Essa Alharby, et al.
Platelets|July 2, 2020
A novel missense variant in the <i>RASGRP2</i> gene in patients with moderate to severe bleeding disorderEssa Alharby, Mohammad A Bakhsh, Alia M Albalawi, et al.
Neurology. Genetics|July 13, 2022
A Biallelic Variant in <i>FRA10AC1</i> Is Associated With Neurodevelopmental Disorder and Growth RetardationNorah Alsaleh, Amal Alhashem, Brahim Tabarki, et al.
Journal of Nephrology|January 9, 2020
Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndromeSulman Basit, Howaida Mohammed Al-Edressi, Mona Hamza Sairafi, et al.
Clinical Genetics|June 12, 2023
Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetesMohammad Awwad Alqahtani, Saleh M Al-Qahtani, Yahya H Al-Falki, et al.
Human Genetics|August 14, 2016
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephalySulman Basit, Khalid M Al-Harbi, Sabri A M Alhijji, et al.
Neurology. Genetics|April 15, 2021
Progressive Ataxia and Neurologic Regression in <i>RFXANK</i>-Associated Bare Lymphocyte SyndromeEssa Alharby, Mona Obaid, Mohammed A O Elamin, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
BMC Medical Genetics|March 23, 2017
Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hipSulman Basit, Alia M Albalawi, Essa Alharby, et al.
Congenital Anomalies|July 11, 2017
Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2Sulman Basit, Essa Alharby, Alia M Albalawi, et al.
Clinical Genetics|December 26, 2024
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal DefectsNaif A M Almontashiri, Aziza Mushiba, Haya Alruqi, et al.
Hematology/Oncology and Stem Cell Therapy|February 18, 2021
A Novel Frameshift Mutation in the ITGB3 Gene Leading to Glanzmann's Thrombasthenia in a Saudi Arabian FamilyAsma Alharbi, Jamil A Hashmi, Essa Alharby, et al.
Platelets|July 2, 2020
A novel missense variant in the <i>RASGRP2</i> gene in patients with moderate to severe bleeding disorderEssa Alharby, Mohammad A Bakhsh, Alia M Albalawi, et al.
Neurology. Genetics|July 13, 2022
A Biallelic Variant in <i>FRA10AC1</i> Is Associated With Neurodevelopmental Disorder and Growth RetardationNorah Alsaleh, Amal Alhashem, Brahim Tabarki, et al.
Journal of Nephrology|January 9, 2020
Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndromeSulman Basit, Howaida Mohammed Al-Edressi, Mona Hamza Sairafi, et al.
Clinical Genetics|June 12, 2023
Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetesMohammad Awwad Alqahtani, Saleh M Al-Qahtani, Yahya H Al-Falki, et al.
Human Genetics|August 14, 2016
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephalySulman Basit, Khalid M Al-Harbi, Sabri A M Alhijji, et al.
Neurology. Genetics|April 15, 2021
Progressive Ataxia and Neurologic Regression in <i>RFXANK</i>-Associated Bare Lymphocyte SyndromeEssa Alharby, Mona Obaid, Mohammed A O Elamin, et al.
Pageof 2