Afaf I. Alsagheir

Riyadh, 11211, Saudi Arabia

Last Updated: 09/26/2026

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Found 57 publications

Genetics and clinical landscape of pediatric monogenic diabetes in consanguineous cohort: high diagnostic yield and recessive burden.

Genetics and clinical landscape of pediatric monogenic diabetes in consanguineous cohort: high diagnostic yield and recessive burden.

Journal: Diabetes research and clinical practice

Published: May 23, 2026

Effect of metreleptin treatment in congenital generalized lipodystrophy: a retrospective analysis from the MENA region.

Effect of metreleptin treatment in congenital generalized lipodystrophy: a retrospective analysis from the MENA region.

Journal: Journal of endocrinological investigation

Published: March 02, 2026

Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.

Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.

Journal: Frontiers in public health

Published: December 14, 2025

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 24, 2025

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

Journal: HGG advances

Published: November 19, 2025

Clinical tools for evaluating congenital adrenal hyperplasia in resource-limited hospitals: a study at a tertiary hospital in Saudi Arabia.

Clinical tools for evaluating congenital adrenal hyperplasia in resource-limited hospitals: a study at a tertiary hospital in Saudi Arabia.

Journal: Frontiers in endocrinology

Published: October 23, 2025

Clinical and genetic profile of achondroplasia: a descriptive study from a tertiary care center in Saudi Arabia.

Clinical and genetic profile of achondroplasia: a descriptive study from a tertiary care center in Saudi Arabia.

Journal: BMC pediatrics

Published: October 14, 2025

Impact of early life exposure to active play and movement on health and wellbeing across the lifespan: A narrative review of RCTs from 2020-2025.

Impact of early life exposure to active play and movement on health and wellbeing across the lifespan: A narrative review of RCTs from 2020-2025.

Journal: Diabetes & metabolic syndrome

Published: October 12, 2025

Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort.

Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort.

Journal: Frontiers in genetics

Published: October 04, 2025

Association of the Glycemia Risk Index With Glycemic Metrics and Sensor Usage in a Real-World Pediatric Population With Low Hypoglycemia Rates in Saudi Arabia.

Association of the Glycemia Risk Index With Glycemic Metrics and Sensor Usage in a Real-World Pediatric Population With Low Hypoglycemia Rates in Saudi Arabia.

Journal: Cureus

Published: August 19, 2025

Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.

Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.

Journal: Journal of the Endocrine Society

Published: August 15, 2025

Denys-Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants.

Denys-Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants.

Journal: Case reports in endocrinology

Published: July 30, 2025

Showing 1-12 of 57

Last Updated: 09/26/2026