Search Results - "Alghamdi, Malak"

Inflammatory bowel disease: An evaluation of health information on the internet by Azer, Samy A, AlOlayan, Thekra I, AlGhamdi, Malak A, AlSanea, Malak A

“…AIM To evaluate the quality and accuracy of websites written to the public on inflammatory bowel disease(IBD)(Crohn’s disease and ulcerative colitis) and…”
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Essential Minerals and Metabolic Adaptation of Immune Cells by Alghamdi, Malak, Gutierrez, Janelle, Komarnytsky, Slavko

“…Modern lifestyles deviated considerably from the ancestral routines towards major shifts in diets and increased sedentarism. The trace elements status of the…”
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Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes by Kafkas, Șenay, Abdelhakim, Marwa, Uludag, Mahmut, Althagafi, Azza, Alghamdi, Malak, Hoehndorf, Robert

“…Identifying variants associated with diseases is a challenging task in medical genetics research. Current studies that prioritize variants within individual…”
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Molecular autopsy by proxy in preconception counseling by Ali Alghamdi, Malak, Alrasheedi, Ameinah, Alghamdi, Esra, Adly, Nouran, AlAali, Wajeih Y., Alhashem, Amal, Alshahrani, Abdulaziz, Shamseldin, Hanan, Alkuraya, Fowzan S., Alfadhel, Majid

“…Monogenic diseases that result in early pregnancy loss or neonatal death are genetically and phenotypically highly variable. This often poses significant…”
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JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency by Alsohime, Fahad, Martin-Fernandez, Marta, Temsah, Mohamad-Hani, Alabdulhafid, Majed, Le Voyer, Tom, Alghamdi, Malak, Qiu, Xueer, Alotaibi, Najla, Alkahtani, Areej, Buta, Sofija, Jouanguy, Emmanuelle, Al-Eyadhy, Ayman, Gruber, Conor, Hasan, Gamal M, Bashiri, Fahad A, Halwani, Rabih, Hassan, Hamdy H, Al-Muhsen, Saleh, Alkhamis, Nouf, Alsum, Zobaida, Casanova, Jean-Laurent, Bustamante, Jacinta, Bogunovic, Dusan, Alangari, Abdullah A

“…A neonate with a loss-of-function mutation in USP18 and exuberant expression of interferon-stimulated genes was experimentally treated with ruxolitinib, which…”
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Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient by Alsohime, Fahad, Almaghamsi, Talal, Basha, Talal A., Alardati, Hosam, Alghamdi, Malak, Hawsawi, Yousef Mohammed

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A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations by Alghamdi, Malak A., Ziermann, Janine M., Gregg, Lydia, Diogo, Rui

“…Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in…”
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Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study 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.

“…Background Primary hyperoxalurias (PHs) constitute rare disorders resulting in abnormal glyoxalate metabolism. PH-associated phenotypes range from progressive…”
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An untold story: The important contributions of Muslim scholars for the understanding of human anatomy by Alghamdi, Malak A., Ziermann, Janine M., Diogo, Rui

“…ABSTRACT It is usually assumed that Galen is one of the fathers of anatomy and that between the Corpus Galenicum and the Renaissance there was no major advance…”
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First use of anatomical networks to study modularity and integration of heads, forelimbs and hindlimbs in abnormal anencephalic and cyclopic vs normal human development by Diogo, Rui, Ziermann, Janine M., Smith, Christopher, Alghamdi, Malak, Fuentes, Jose S. M., Duerinckx, Andre

“…The ill-named “logic of monsters” hypothesis of Pere Alberch - one of the founders of modern evo-devo - emphasized the importance of “internal rules” due to…”
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Effect of common medications on the expression of SARS-CoV-2 entry receptors in liver tissue 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

“…Besides lung drastic involvement, SARS-CoV-2 severely affected other systems including liver. Emerging epidemiological studies brought the attentions towards…”
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Loss of Function Variant in SMAD6 Is Associated With a Novel Phenotype of Internal Carotid Artery Dissection by Alghamdi, Malak A, Alqarawi, Wael, Alharbi, Essa, Balahmar, Reham M, Alruqi, Haya, Jadu, Nisserin, Alhomidan, Majid, Alghamdi, Mohammed Hussien, Almontashiri, Naif A M

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Atypical presentation of pallister–Hall syndrome with central precious puberty by Hala Gasim Omer, Amal Ali Alhakami, Malak Ali Alghamdi, Reem Abdullah Al Khalifah

“…Pallister–Hall syndrome (PHS) is a rare, autosomal dominant genetic disorder. The phenotypic features of the syndrome include hypothalamic hamartoma,…”
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Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases by Alghamdi, Malak A., Tohary, Mohammed, Alzaidan, Hamad, Imtiaz, Faiqa, Al‐Hassnan, Zuhair N.

“…Succinyl‐CoA:3‐ketoacid CoA transferase (SCOT) deficiency is an inherited metabolic disease caused by mutated OXCT1 gene resulting in recurrent ketoacidosis…”
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Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy by Al-Hassnan, Zuhair N., Almesned, Abdulrahman, Tulbah, Sahar, Alakhfash, Ali, Alhadeq, Faten, Alruwaili, Nadiah, Alkorashy, Maarab, Alhashem, Amal, Alrashdan, Ahmad, Faqeih, Eissa, Alkhalifi, Salwa M., Al humaidi, Zainab, Sogaty, Sameera, Azhari, Nawal, Bakhaider, Abdulrahman M., Al asmari, Ali, Awaji, Ali, Albash, Buthaina, Alhabdan, Mohammed, Alghamdi, Malak A., Alshuaibi, Walaa, Al-Hassnan, Raghad Z., Alshenqiti, Abduljabbar, Alqahtani, Aisha, Shinwari, Zarghuna, Rbabeh, Monther, Takroni, Saud, Alomrani, Ahmed, Albert Brotons, Dimpna C., AlQwaee, Abdullah M., Almanea, Waleed, Alfadley, Fadel A., Alfayyadh, Majid, Alwadai, Abdullah

“…Childhood-onset cardiomyopathy is a heterogeneous group of conditions the cause of which is largely unknown. The influence of consanguinity on the genetics of…”
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Allergic Rhinitis: Tailoring Immunotherapy Through Innovative Diagnostics by Abushal, Bandar A, Bormah, Abdullah, Alghamdi, Malak, Tubaigi, Yahay S, Alomari, Amal, Khan, Safwan N, Alhafez, Nouryah A, Aladni, Ibrahim S

“…Allergic rhinitis (AR) is a chronic ailment triggered by immunoglobulin E (IgE)-mediated reactions to allergens. Generally, AR is accompanied by asthma and…”
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A challenging diagnosis of B-ketothiolase deficiency mimicking type 1 diabetes mellitus by Amal Ali Al-Hakami, Malak Ali Alghamdi, Khalid Sumaily, Reem Abdullah Al-Khalifah

“…Beta-ketothiolase (BKT) deficiency is a disorder of ketone body metabolism and isoleucine catabolism. Patients with BKT deficiency have intermittent…”
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Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital by Bashiri, Fahad A, AlSheikh, Rawan, Hamad, Muddathir H, Alsheikh, Hamad, Alsheikh, Rana Abdullah, Kentab, Amal, AlTheeb, Najd, Alghamdi, Malak

“…Background: Despite the high consanguinity rates, data on genetic epilepsy in Saudi Arabia is limited. The objective of the current study was to characterize…”
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Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study by Alghamdi, Malak, Alhasan, Khalid A., Taha Elawad, Areej, Salim, Suha, Abdelhakim, Marwa, Nashabat, Marwan, Raina, Rupesh, Kari, Jameela, Alfadhel, Majid

“…Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which…”
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The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data by Alfadhel, Majid, Almuqbil, Mohammed, Al Mutairi, Fuad, Umair, Muhammad, Almannai, Mohammed, Alghamdi, Malak, Althiyab, Hamad, Albarakati, Rayyan, Bashiri, Fahad A., Alshuaibi, Walaa, Ba-Armah, Duaa, Saleh, Mohammed A., Al-Asmari, Ali, Faqeih, Eissa, Altuwaijri, Waleed, Al-Rumayyan, Ahmed, Balwi, Mohammed Ali, Ababneh, Faroug, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa M., Almontashiri, Naif A. M., Alhashem, Amal, Hundallah, Khalid, Bertoli-Avella, Aida, Bauer, Peter, Beetz, Christian, Alrifai, Muhammad Talal, Alfares, Ahmed, Tabarki, Brahim

“…Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement…”
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