H. Al-Zaidan

发表

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Olfat Al-Harazi, N. Kaya, D. Çolak, 2020, Omics : a journal of integrative biology.

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.

A. Verloes, O. Khalifa, F. Imtiaz, 2015, European journal of medical genetics.

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance

N. Kaya, R. Basran, M. Al-Owain, 2011, Clinical genetics.

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

E. Faqeih, M. Alfadhel, Z. Al-Hassnan, 2019, Molecular genetics and metabolism reports.

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

J. Casanova, N. Kaya, A. Puel, 2010, Clinical & developmental immunology.

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

E. Faqeih, M. Alfadhel, Z. Al-Hassnan, 2016, JIMD reports.

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications

Z. Al-Hassnan, M. Rashed, M. Al-Owain, 2010, Journal of Inherited Metabolic Disease.

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.

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.

N. Kaya, D. Çolak, S. Coskun, 2008, European journal of medical genetics.

A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11

N. Kaya, D. Çolak, A. Al-Bakheet, 2013, Clinical genetics.

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection

Z. Al-Hassnan, M. Abouelhoda, Asma I Tahir, 2018, Genes.

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Z. Al-Hassnan, N. Al-Numair, M. Al-Hamed, 2017, Molecular genetics and metabolism reports.

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

N. Kaya, D. Çolak, Y. Lakmache, 2013, American journal of human genetics.

Munchausen syndrome by proxy mimicking as Gaucher disease

M. Al-Owain, H. Al-Zaidan, A. Al-Hashem, 2010, European Journal of Pediatrics.

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype

Tariq Ahmad Masoodi, Z. Al-Hassnan, B. Meyer, 2017, American journal of medical genetics. Part A.

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

D. Nickerson, M. Bamshad, J. Graham, 2021, American journal of medical genetics. Part A.

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle‐Eastern origin

T. Ben-Omran, Z. Al-Hassnan, M. Al-Owain, 2018, American journal of medical genetics. Part A.

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

F. Alkuraya, Y. Xiong, S. Anazi, 2015, Genetics in Medicine.

Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

Z. Al-Hassnan, Mohammed Al-Owain, M. Al-Owain, 2012, American journal of medical genetics. Part A.

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.

N. Kaya, Z. Al-Hassnan, M. Al-Owain, 2016, Intractable & rare diseases research.

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Robert W. Taylor, W. Chung, H. Prokisch, 2017, Annals of neurology.

Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature

M. Al-Owain, F. Imtiaz, H. Al-Zaidan, 2014, European Journal of Pediatrics.

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

Z. Al-Hassnan, B. Meyer, M. Rashed, 2011, Molecular genetics and metabolism.

Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia

A. Qari, H. Al-Zaidan, A. Balobaid, 2016, International journal of pediatrics & adolescent medicine.

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5

E. Faqeih, S. Zaidi, M. Faiyaz-ul-Haque, 2008, Journal of Bone and Mineral Metabolism.

Optic neuropathy in classical methylmalonic acidemia

A. Eldali, Z. Al-Hassnan, H. Nezzar, 2019, Ophthalmic genetics.

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

F. Alkuraya, Y. Xiong, S. Anazi, 2015, Genetics in Medicine.