I. Peltekova

发表

Membrane surface charge dictates the structure and function of the epithelial Na+/H+ exchanger

S. Grinstein, M. Zasloff, T. Yeung, 2011, The EMBO journal.

Microdeletion on 3p25 in a patient with features of 3p deletion syndrome

C. Armour, I. Peltekova, A. Macdonald, 2012, American journal of medical genetics. Part A.

Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions

S. Scherer, J. Howe, R. Joober, 2020, Journal of genetic counseling.

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.

Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing

J. Howe, R. Joober, M. Elsabbagh, 2021, Molecular genetics & genomic medicine.

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

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

Mutations in the CHX10 gene in non‐syndromic microphthalmia/anophthalmia patients from Qatar

L. Tsui, A. Teebi, I. Peltekova, 2007, Clinical genetics.

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.

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients

F. Al-Dayel, B. Bin-Abbas, I. Peltekova, 2009, Clinical genetics.

Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series

M. Elsabbagh, Afiqah Yusuf, Emily Kirby, 2021, Journal of personalized medicine.

Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning.

S. Scherer, J. Howe, R. Joober, 2020, Research in developmental disabilities.

Association between distress and knowledge among parents of autistic children

S. Scherer, J. Howe, R. Joober, 2019, PloS one.

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.

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.

Novel interstitial deletion of 10q24.3–25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys

C. Armour, I. Peltekova, Julie Hurteau-Millar, 2014, American journal of medical genetics. Part A.

Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene

A. Teebi, I. Peltekova, M. Faiyaz-ul-Haque, 2009, Clinical genetics.

Membrane surface charge dictates the structure and function of the epithelial Na+/H+ exchanger

S. Grinstein, M. Zasloff, T. Yeung, 2011, The EMBO journal.

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.