Malak Ali Alghamdi

10PUBLICATIONS
21CO-AUTHORS
NeonatologyEpigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)Medical parasitologyGene mapping
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Publications (10)

|May 21, 2025
Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant.

Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah

|Dec 20, 2024
Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.

Malak Ali Alghamdi, Muddathir H Hamad, Isra Alghamdi

|Jul 29, 2024
Loss of Function Variant in SMAD6 Is Associated With a Novel Phenotype of Internal Carotid Artery Dissection.

Malak A Alghamdi, Wael Alqarawi, Essa Alharbi

|Sep 13, 2023
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.

Malak Ali Alghamdi, Anne O'Donnell-Luria, Naif A Almontashiri

|Sep 23, 2022
Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital.

Khalid A Alhasan, Walaa Alshuaibi, Muddathir H Hamad

|Aug 18, 2021
Molecular autopsy by proxy in preconception counseling.

Malak Ali Alghamdi, Ameinah Alrasheedi, Esra Alghamdi

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