M. Al-Owain

发表

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

F. Alkuraya, M. Suri, M. Barrios-Llerena, 2019, American journal of human genetics.

Novel homozygous mutation in DSP causing skin fragility–woolly hair syndrome: report of a large family and review of the desmoplakin‐related phenotypes

O. Khalifa, H. Al-Hindi, S. Wakil, 2011, Clinical genetics.

Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.

F. Alkuraya, D. Monies, C. Vågbø, 2019, American journal of human genetics.

Novel mutation in GLRB in a large family with hereditary hyperekplexia

N. Kaya, D. Çolak, A. Al-Bakheet, 2012, Clinical genetics.

Bi-allelic premature truncating variants in LTBP1 cause 1 autosomal recessive cutis laxa syndrome

Christin, Adamo, F. Alkuraya, 2021 .

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

F. Alkuraya, D. Çolak, A. Alazami, 2012, Human mutation.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

A. Pagnamenta, J. Lupski, D. Misceo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

ICF Syndrome in Saudi Arabia: Immunological, Cytogenetic and Molecular Analysis

A. Al-ghonaium, N. Kaya, D. Çolak, 2011, Journal of Clinical Immunology.

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.

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.

A novel X‐linked disorder with developmental delay and autistic features

F. Alkuraya, N. Kaya, D. Çolak, 2012, Annals of neurology.

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

N. Shimozawa, R. Shaheen, M. Hashem, 2011, Clinical genetics.

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, Brain : a journal of neurology.

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.

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

F. Alkuraya, W. Newman, S. Efthymiou, 2021, American journal of human genetics.

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

F. Alkuraya, W. Newman, S. Efthymiou, 2021, American journal of human genetics.

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease

N. Kaya, D. Çolak, S. Coskun, 2008, Genetics in Medicine.

Prolactinoma as a Cause of Persistent Hyperprolactinemia in 6-Pyruvoyl-tetrahydropterin synthase Deficiency

Manal Jilwan, R. Gama, M. Al-Owain, 2020, Journal of Rare Diseases Research & Treatment.

Growth Hormone Deficiency Associated with Methylmalonic Acidemia

C. Freehauf, M. Al-Owain, M. Kappy, 2004, Journal of pediatric endocrinology & metabolism : JPEM.

Interstitial del(20)(q11.2q12)—Clinical and molecular cytogenetic characterization

M. Al-Owain, M. A. Iqbal, 2007, American journal of medical genetics. Part A.