# Ghada El‐Kamah
**Type:** Researchers
**Canonical URL:** https://scholariq.org/researchers/ghada-el-kamah/
## Facts
| Field | Value |
| --- | --- |
| Citations | 695 |
| Field | Hemoglobinopathies and Related Disorders |
| h-index | 14 |
| i10-index | 20 |
| Last Known Institution | National Research Centre |
| OpenAlex ID | https://openalex.org/A5047730377 |
| ORCID iD | 0000-0002-7739-1674 |
| Works | 72 |
## Researcher papers
- [The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review](https://scholariq.org/papers/the-clinical-utility-of-polygenic-risk-scores-in-genomic-medicine-practices-a/)
- [Consanguinity and Inbreeding in Health and Disease in North African Populations](https://scholariq.org/papers/consanguinity-and-inbreeding-in-health-and-disease-in-north-african-populations/)
- [Spectrum of mutations in theANTXR2(CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis](https://scholariq.org/papers/spectrum-of-mutations-in-the-i-antxr2-i-i-cmg2-i-gene-in-infantile-systemic/)
- [Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients.](https://scholariq.org/papers/maternal-vitamin-b12-and-the-risk-of-fetal-neural-tube-defects-in-egyptian/)
- [Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome](https://scholariq.org/papers/chilblains-as-a-diagnostic-sign-of-aicardi-goutieres-syndrome/)
- [A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder](https://scholariq.org/papers/a-homozygous-mutation-in-i-rnu4atac-i-as-a-cause-of-microcephalic/)
- [Quality of Life Outcomes in a Pediatric Thalassemia Population in Egypt](https://scholariq.org/papers/quality-of-life-outcomes-in-a-pediatric-thalassemia-population-in-egypt/)
- [Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations](https://scholariq.org/papers/gene-mutations-of-the-three-ectodysplasin-pathway-key-players-eda-edar-and/)
- [Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries](https://scholariq.org/papers/global-globin-network-consensus-paper-classification-and-stratified-roadmaps-for/)
- [The most encountered groups of genetic disorders in Giza Governorate, Egypt.](https://scholariq.org/papers/the-most-encountered-groups-of-genetic-disorders-in-giza-governorate-egypt/)
- [Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families](https://scholariq.org/papers/outlining-the-clinical-profile-of-tcirg1-14-variants-including-5-novels-with/)
## Researcher topics
- [Hemoglobinopathies and Related Disorders](https://scholariq.org/topics/hemoglobinopathies-and-related-disorders/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [DNA Repair Mechanisms](https://scholariq.org/topics/dna-repair-mechanisms/)
- [Iron Metabolism and Disorders](https://scholariq.org/topics/iron-metabolism-and-disorders/)
- [CRISPR and Genetic Engineering](https://scholariq.org/topics/crispr-and-genetic-engineering/)
## Researcher university
- [National Research Centre](https://scholariq.org/institutions/national-research-centre/)
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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.