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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

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