Works by Alghamdi, Malak

Results: 29

The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.

Published in:

Cardiology, 2017, v. 137, n. 3, p. 188, doi. 10.1159/000465516

By:

Shinwari, Zarghuna M.a.;
almesned, abdulrahman;
alakhfash, ali;
al-Rashdan, ahmad M.;
Faqeih, Eissa;
al-Humaidi, Zainab;
alomrani, ahmed;
alghamdi, Malak;
Colak, Dilek;
alwadai, abdullah;
Rababh, Monther;
al-Fayyadh, Majid;
al-Hassnan, Zuhair N.

Publication type:

Article

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-99539-y

By:

Kafkas, Şenay;
Abdelhakim, Marwa;
Althagafi, Azza;
Toonsi, Sumyyah;
Alghamdi, Malak;
Schofield, Paul N.;
Hoehndorf, Robert

Publication type:

Article

A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations.

Published in:

Journal of Anatomy, 2017, v. 230, n. 6, p. 842, doi. 10.1111/joa.12601

By:

Alghamdi, Malak A.;
Ziermann, Janine M.;
Gregg, Lydia;
Diogo, Rui

Publication type:

Article

Sodium Oxybate‐Treated Familial Myoclonus‐Dystonia Syndrome Due to Novel SGCE Variant.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63964

By:

Alghamdi, Malak Ali;
Hamad, Muddathir H.;
Alghamdi, Isra;
Alghamdi, Ghiada;
Al‐Jelaify, Muneera;
Alshimemeri, Sohaila;
Hamed, Hebattalah;
Adly, Nouran;
Salih, Mustafa A.;
Almontashiri, Naif A.;
Bashiri, Fahad A.

Publication type:

Article

Effect of common medications on the expression of SARS-CoV-2 entry receptors in liver tissue.

Published in:

Archives of Toxicology, 2020, v. 94, n. 12, p. 4037, doi. 10.1007/s00204-020-02869-1

By:

Saheb Sharif-Askari, Narjes;
Saheb Sharif-Askari, Fatemeh;
Mdkhana, Bushra;
Al Heialy, Saba;
Ratemi, Elaref;
Alghamdi, Malak;
Abusnana, Salah;
Kashour, Tarek;
Hamid, Qutayba;
Halwani, Rabih

Publication type:

Article

Molecular autopsy by proxy in preconception counseling.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 678, doi. 10.1111/cge.14049

By:

Ali Alghamdi, Malak;
Alrasheedi, Ameinah;
Alghamdi, Esra;
Adly, Nouran;
AlAali, Wajeih Y.;
Alhashem, Amal;
Alshahrani, Abdulaziz;
Shamseldin, Hanan;
Alkuraya, Fowzan S.;
Alfadhel, Majid

Publication type:

Article

Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 513, doi. 10.1111/cge.13905

By:

Abbasi‐Moheb, Lia;
Westenberger, Ana;
Alotaibi, Maha;
Alghamdi, Malak Ali;
Hertecant, Jozef L.;
Ariamand, Amir;
Beetz, Christian;
Rolfs, Arndt;
Bertoli‐Avella, Aida M.;
Bauer, Peter

Publication type:

Article

Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 99, doi. 10.1111/cge.13843

By:

Alghamdi, Malak;
Bashiri, Fahad A.;
Abdelhakim, Marwa;
Adly, Nouran;
Jamjoom, Dima Z.;
Sumaily, Khalid M.;
Alghanem, Bandar;
Arold, Stefan T.

Publication type:

Article

A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness.

Published in:

Journal of the Endocrine Society, 2020, v. 4, n. 2, p. N.PAG, doi. 10.1210/jendso/bvz028

By:

Alghamdi, Malak;
Khalifah, Reem Al;
Homyani, Doua K Al;
Alkhamis, Waleed H;
Arold, Stefan T;
Ekhzaimy, Aishah;
El-Wetidy, Mohammed;
Kashour, Tarek;
Halwani, Rabih

Publication type:

Article

Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.

Published in:

European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2547, doi. 10.1007/s00431-023-05012-1

By:

Abukhaled, Musaad;
Al Muqbil, Mohammed;
Alghamdi, Malak Ali;
Hundallah, Khalid;
Suleiman, Jehan;
Ben-Omran, Tawfeg;
Alfadhel, Majid;
Almannai, Mohammed;
Alsaleh, Rehab;
Tabarki, Brahim

Publication type:

Article

Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.

Published in:

European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2535, doi. 10.1007/s00431-023-04886-5

By:

Abukhaled, Musaad;
Al Muqbil, Mohammed;
Alghamdi, Malak Ali;
Hundallah, Khalid;
Suleiman, Jehan;
Ben-Omran, Tawfeg;
Alfadhel, Majid;
Almannai, Mohammed;
Alsaleh, Rehab;
Tabarki, Brahim

Publication type:

Article

Betalain–Chickpea Protein Particles Produced by Freeze Drying and Spray Drying: Physicochemical Aspects, Storage Stability, and In Vitro Digestion.

Published in:

Foods, 2025, v. 14, n. 2, p. 281, doi. 10.3390/foods14020281

By:

Grace, Mary H.;
Hoskin, Roberta Targino;
Alghamdi, Malak;
Lila, Mary Ann;
Chalova, Vesela I.

Publication type:

Article

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.

Published in:

2022

By:

Ali Alghamdi, Malak;
Benabdelkamel, Hicham;
Masood, Afshan;
Saheb Sharif-Askari, Narjes;
Hachim, Mahmood Y.;
Alsheikh, Hamad;
Hamad, Muddathir H.;
Salih, Mustafa A.;
Bashiri, Fahad A.;
Alhasan, Khalid;
Kashour, Tarek;
Guatibonza Moreno, Pilar;
Schröder, Sabine;
Karageorgou, Vasiliki;
Bertoli-Avella, Aida M.;
Alkhalidi, Hisham;
Jamjoom, Dima Z.;
Alorainy, Ibrahim A.;
Alfadda, Assim A.;
Halwani, Rabih

Publication type:

Case Study

Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital.

Published in:

Children, 2023, v. 10, n. 8, p. 1334, doi. 10.3390/children10081334

By:

Bashiri, Fahad A.;
AlSheikh, Rawan;
Hamad, Muddathir H.;
Alsheikh, Hamad;
Alsheikh, Rana Abdullah;
Kentab, Amal;
AlTheeb, Najd;
Alghamdi, Malak

Publication type:

Article

Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital.

Published in:

Children, 2022, v. 9, n. 9, p. N.PAG, doi. 10.3390/children9091335

By:

Alhasan, Khalid A.;
Alshuaibi, Walaa;
Hamad, Muddathir H.;
Salim, Suha;
Jamjoom, Dima Z.;
Alhashim, Aqeela H.;
AlGhamdi, Malak Ali;
Kentab, Amal Y.;
Bashiri, Fahad A.

Publication type:

Article

Essential Minerals and Metabolic Adaptation of Immune Cells.

Published in:

Nutrients, 2023, v. 15, n. 1, p. 123, doi. 10.3390/nu15010123

By:

Alghamdi, Malak;
Gutierrez, Janelle;
Komarnytsky, Slavko

Publication type:

Article

An untold story: The important contributions of Muslim scholars for the understanding of human anatomy.

Published in:

Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2017, v. 300, n. 6, p. 986, doi. 10.1002/ar.23523

By:

Alghamdi, Malak A.;
Ziermann, Janine M.;
Diogo, Rui

Publication type:

Article

Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient.

Published in:

2021

By:

Alsohime, Fahad;
Almaghamsi, Talal;
Basha, Talal A.;
Alardati, Hosam;
Alghamdi, Malak;
Hawsawi, Yousef Mohammed

Publication type:

Letter

A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings.

Published in:

Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.599564

By:

Alghamdi, Malak Ali;
Mulla, Jaazeel;
Saheb Sharif-Askari, Narjes;
Guzmán-Vega, Francisco J.;
Arold, Stefan T.;
Abd-Alwahed, Mervat;
Alharbi, Nasser;
Kashour, Tarek;
Halwani, Rabih

Publication type:

Article

Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.

Published in:

Pediatric Nephrology, 2023, v. 38, n. 6, p. 1801, doi. 10.1007/s00467-022-05784-y

By:

Alfadhel, Majid;
Umair, Muhammad;
Alghamdi, Malak A.;
Al Fakeeh, Khalid;
Al Qahtani, Abdullah T.;
Farahat, Afrah;
Shalaby, Mohamed A.;
Kari, Jameela A.;
Raina, Rupesh;
Cochat, Pierre;
Alhasan, Khalid A.

Publication type:

Article

Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes.

Published in:

BMC Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12859-023-05406-w

By:

Kafkas, Șenay;
Abdelhakim, Marwa;
Uludag, Mahmut;
Althagafi, Azza;
Alghamdi, Malak;
Hoehndorf, Robert

Publication type:

Article

Quality of Life of Caregivers of Patients with Cancer: A Cross-Sectional Study.

Published in:

Healthcare (2227-9032), 2025, v. 13, n. 5, p. 521, doi. 10.3390/healthcare13050521

By:

Alghamdi, Wardah A.;
Almatrafi, Montaha A.;
Asiri, Rimas A.;
Almuraee, Lama A.;
Alsharif, Sarah M.;
Makhdoum, Faizah M.;
Alghamdi, Malak A.;
Althubaiti, Alaa;
Alghamdi, Majed A.

Publication type:

Article

Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.

Published in:

Clinical Case Reports, 2021, v. 9, n. 1, p. 229, doi. 10.1002/ccr3.3504

By:

Alghamdi, Malak Ali;
Alkhamis, Waleed H.;
Jamjoom, Dima Z.;
Al Khalifah, Reem;
Alshammari, Nawaf Rahi;
Alsumaili, Khalid;
Arold, Stefan T.

Publication type:

Article

Capsaicinoid Profiles, Phenolic Content, and Antioxidant Properties of Chili Peppers Grown in Urban Settings.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4916, doi. 10.3390/ijms26104916

By:

Alghamdi, Malak;
Rathinasabapathy, Thirumurugan;
Komarnytsky, Slavko

Publication type:

Article

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 312, doi. 10.1002/jmd2.12384

By:

Alghamdi, Malak Ali;
O'Donnell‐Luria, Anne;
Almontashiri, Naif A.;
AlAali, Wajeih Y.;
Ali, Hebatallah H.;
Levy, Harvey L.

Publication type:

Article

Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases.

Published in:

2021

By:

Alghamdi, Malak A.;
Tohary, Mohammed;
Alzaidan, Hamad;
Imtiaz, Faiqa;
Al‐Hassnan, Zuhair N.

Publication type:

Case Study

Atypical Presentation of Pallister--Hall Syndrome with Central Precious Puberty.

Published in:

2022

By:

Omer, Hala Gasim;
Alhakami, Amal Ali;
Alghamdi, Malak Ali;
Al Khalifah, Reem Abdullah

Publication type:

Case Study

Perceptions of medical students regarding methods of teaching human anatomy.

Published in:

Cogent Education, 2024, v. 11, n. 1, p. 1, doi. 10.1080/2331186X.2024.2340836

By:

Alghamdi, Malak A.;
Bu Saeed, Reem;
Fudhah, Waad;
Alqarni, Danah;
Albarzan, Shahad;
Alamoudi, Sheifa;
Khan, Muhammad Anwar

Publication type:

Article

Removal of aflatoxin G1 using lactic acid bacteria.

Published in:

Journal of Food Processing & Preservation, 2021, v. 45, n. 1, p. 1, doi. 10.1111/jfpp.15090

By:

Danial, Enas N.;
Lamfon, Majd Y.;
Alghamdi, Leen A.;
Alamri, Amna M.;
Alghamdi, Malak S.;
Alghamdi, Soha A.

Publication type:

Article