H. Abalkhail

发表

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

Peter Natesan Pushparaj, Jennifer D. Churchill, Omran M. Rashidi, 2016, BMC Genomics.

Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.

M. Athar, F. Al-Allaf, M. Taher, 2017, Acta biochimica Polonica.

Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.

M. Athar, F. Al-Allaf, M. Taher, 2016, Genomics.

A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.

John Mitchell, J. De Belleroche, R. Orrell, 2003, American journal of human genetics.

Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies

F. Al-Allaf, M. Taher, A. Bouazzaoui, 2017, Journal of clinical medicine research.

Molecular patterns of β-thalassemia mutations of Saudi patients referred to King Faisal Specialist Hospital and Research Center

H. Khogeer, H. Abalkhail, S. Khalil, 2017 .

A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease)

F. Al-Dayel, A. Alaiya, H. Abalkhail, 2009, Clinical genetics.

Identification of Four Novel Factor VIII Gene Mutations and Protein Structure Analysis using Molecular Dynamic Simulation

M. Athar, F. Al-Allaf, M. Taher, 2017 .

Mutation Screening of the Factor VIII Gene in Hemophilia A in Saudi Arabia: Two Novel Mutations and Genotype-Phenotype Correlation

F. Al-Allaf, M. Taher, A. Bouazzaoui, 2016 .

Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia

M. Athar, F. Al-Allaf, M. Taher, 2014, Human Genome Variation.

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds

N. Kaya, E. Faqeih, M. Rashed, 2014, Annals of Saudi medicine.

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

Peter Natesan Pushparaj, Jennifer D. Churchill, Omran M. Rashidi, 2016, BMC Genomics.

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency

F. Al-Dayel, A. Cluntun, Z. Al-Hassnan, 2009, European Journal of Pediatrics.

Pancreatic metastasis arising from a BRAF(V600E)-positive papillary thyroid cancer: the role of endoscopic ultrasound-guided biopsy and response to sorafenib therapy.

A. Alzahrani, Fahad Al Sohaibani, H. Abalkhail, 2012, Thyroid : official journal of the American Thyroid Association.

Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions

M. Dasouki, S. Hashmi, H. Abalkhail, 2020, Acta Haematologica.

Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.

M. Athar, F. Al-Allaf, M. Taher, 2015, Gene.

Detection of mutations in JAK2 exons 12–15 by Sanger sequencing

H. Abalkhail, N. Alghasham, S. Khalil, 2016, International journal of laboratory hematology.

Novel and Recurrent Mutations in the C1NH Gene of Arab Patients Affected with Hereditary Angioedema

F. Al-Dayel, A. Khaliq, H. Abalkhail, 2009, International Archives of Allergy and Immunology.

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations

F. Al-Dayel, A. Alaiya, H. Abalkhail, 2010, European Journal of Pediatrics.

Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab Patients

Z. Nawaz, F. Al-Dayel, Hussah F. Alhussaini, 2018, Asian Pacific journal of cancer prevention : APJCP.

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease.

Z. Nawaz, S. Basit, F. Al-Dayel, 2020, Cancer genetics.

Multiple paraganglioma syndrome type 4 due to succinate dehydrogenase B mutation: diagnostic and therapeutic challenges of a skull base paraganglioma masquerading as nasopharyngeal cancer.

F. Al-Dayel, A. Alzahrani, H. Abalkhail, 2010, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

Chimerism Analysis of Cell-Free DNA in Patients Treated with Hematopoietic Stem Cell Transplantation May Predict Early Relapse in Patients with Hematologic Malignancies

M. Aljurf, M. Albitar, M. Ayas, 2016, Biotechnology research international.

Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria

H. Abalkhail, T. Shuaib, I. Peltekova, 2012, Clinical Genetics.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

Donor-derived extramedullary acute promyelocytic leukemia post kidney transplant

N. Chaudhri, N. Bakshi, H. Abalkhail, 2015, Annals of Hematology.

Identification of six novel factor viii gene variants using next generation sequencing and molecular dynamics simulation.

M. Athar, F. Al-Allaf, M. Taher, 2019, Acta biochimica Polonica.

1. Founder mutation identified in the LDLR gene causing familial hypercholesterolemia associated with increased risk of coronary heart disease

M. Athar, F. Al-Allaf, F. Alnouri, 2017 .

Novel and Recurrent Mutations in the C1NH Gene of Arab Patients Affected with Hereditary Angioedema

F. Al-Dayel, A. Khaliq, H. Abalkhail, 2009, International Archives of Allergy and Immunology.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.

M. Athar, F. Al-Allaf, M. Taher, 2017, Acta biochimica Polonica.

Cytogenetics and molecular markers of acute myeloid leukemia from a tertiary care center in Saudi Arabia

H. Abalkhail, S. Khalil, Abdulaziz Alrajeh, 2017 .