N. Al Tassan

发表

Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients

Ahmad Adi, Bassam Bin Abbas, M. Al Hamed, 2015, Genes.

DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia.

W. Khan, J. Shaik, N. Al Tassan, 2013, Biological research.

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

M. Abouelhoda, D. Monies, S. Subhani, 2017, Scientific Reports.

Interleukin 17A and F and asthma in Saudi Arabia: gene polymorphisms and protein levels.

A. Al-amri, S. Al‐Muhsen, M. Bazzi, 2011, Journal of investigational allergology & clinical immunology.

Characterizing the morbid genome of ciliopathies

Colin A. Johnson, Anason S. Halees, M. Ueffing, 2016, Genome Biology.

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia

P. Bavi, Z. Abduljaleel, S. Bohlega, 2012, Human mutation.

Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder

M. Ghaziuddin, N. Al Tassan, Jameela M A Shinwari, 2017, Psychiatric genetics.

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

Thamer A. Alamoudi, Abdulrahman Almusa, A. Tarawah, 2019, npj Genomic Medicine.

Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia

S. Bohlega, N. Al Tassan, Jameela M A Shinwari, 2011, BMC Medical Genetics.

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

S. Bohlega, M. Abouelhoda, D. Monies, 2016, BMC Research Notes.

Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.

A. Alaiya, Arif O. Khan, Z. Shinwari, 2015, American journal of human genetics.

Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.

Arif O. Khan, N. Al Tassan, Dania S. Khalil, 2010, Ophthalmology.

Characterizing the morbid genome of ciliopathies

Colin A. Johnson, Anason S. Halees, M. Ueffing, 2016, Genome Biology.

Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.

Arif O. Khan, N. Al Tassan, Jameela M A Shinwari, 2011, Archives of ophthalmology.

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

M. Abouelhoda, D. Monies, S. Subhani, 2017, Scientific Reports.

Molecular classification of blood and bleeding disorder genes

M. Dasouki, M. Abouelhoda, D. Monies, 2021, npj Genomic Medicine.

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

J. Gusella, R. Quinton, N. Katsanis, 2014, Proceedings of the National Academy of Sciences.

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.

Expanding the genetic heterogeneity of intellectual disability

F. Alkuraya, S. Arold, H. Houlden, 2017, Human Genetics.

Molecular classification of blood and bleeding disorder genes

M. Dasouki, M. Abouelhoda, D. Monies, 2021, NPJ genomic medicine.

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

S. Bohlega, M. Abouelhoda, D. Monies, 2016, BMC Research Notes.

Parkinson’s Disease in Saudi Patients: A Genetic Study

S. Bohlega, Asma I Tahir, N. Al Tassan, 2015, PloS one.

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

F. Alkuraya, E. Faqeih, S. Anazi, 2019, Clinical genetics.

Homozygosity analysis in subjects with autistic spectrum disorder.

B. Meyer, M. Nester, Ahmad Adi, 2015, Molecular medicine reports.

Expanding the phenome and variome of skeletal dysplasia

S. Kapoor, F. Alkuraya, E. Faqeih, 2018, Genetics in Medicine.

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

F. Alkuraya, P. Bavi, B. Meyer, 2009, American journal of human genetics.

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families

A. Al-amri, Arif O. Khan, M. Alanazi, 2011, Molecular vision.

Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)

Arif O. Khan, N. Al Tassan, Jameela M A Shinwari, 2011, Molecular vision.

Genetic Study of Alzheimer's Disease in Saudi Population.

N. Qadi, S. Al Rajeh, N. Al Tassan, 2019, Journal of Alzheimer's disease : JAD.

A New Susceptibility Locus for Myocardial Infarction, Hypertension, Type 2 Diabetes Mellitus, and Dyslipidemia on Chromosome 12q24

N. Dzimiri, B. Meyer, S. Wakil, 2014, Disease markers.

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.

I Tomlinson, J. Gilbert, O. Sieber, 2000, Human molecular genetics.

Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome

Arif O. Khan, N. Al Tassan, Jameela M A Shinwari, 2011, Molecular vision.

Estimating transfection efficiency in differentiated and undifferentiated neural cells

N. Al Tassan, A. Assiri, Falah Almohanna, 2019, BMC Research Notes.

DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia.

W. Khan, J. Shaik, N. Al Tassan, 2013, Biological research.

Estimating transfection efficiency in differentiated and undifferentiated neural cells

N. Al Tassan, A. Assiri, Falah Almohanna, 2019, BMC Research Notes.