Ameera S. Balobaid
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 11 publications
Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.
Journal: Genetic testing and molecular biomarkers
Published: May 31, 2023
Knowledge and attitudes regarding non-invasive prenatal testing among women in Saudi Arabia.
Journal: Prenatal diagnosis
Published: November 07, 2020
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Journal: American journal of medical genetics. Part A
Published: June 24, 2018
Autozygome and high throughput confirmation of disease genes candidacy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 16, 2018
Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
Journal: Journal of neurophysiology
Published: April 17, 2017
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
Journal: Molecular genetics and metabolism reports
Published: January 25, 2017
Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia.
Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia.
Journal: International journal of pediatrics & adolescent medicine
Published: December 16, 2015
Combined TSC1 and LMX1B mutations in a single patient.
Journal: Clinical dysmorphology
Published: January 31, 2014
Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.
Journal: American journal of medical genetics. Part A
Published: October 27, 2013
The development of genetic counseling services and training program in Saudi Arabia.
Journal: Journal of genetic counseling
Published: October 29, 2012
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
Journal: Journal of medical genetics
Published: April 14, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026