المؤلفون: Abdul Rafiq Khan, Souad Al-Enazi, Areej Al-Gahtani, Saleh Al-Zahrani, Syed Muhammad Saad, Khalid Mohammed Khan, Ali Alothaim

المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101045- (2024)

مصطلحات موضوعية: Serum Biotinidase, HPLC-FL method, Validation, Quantification, 4-Aminobenzoic acid, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000915; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/104d42acd9774fdc9a6a55214e406028

المؤلفون: Adbul Rafiq Khan, Ali Alothaim, Ahmed Alfares, Adil Jowed, Souad Marwan Al Enazi, Saad Mohammed Al Ghamdi, Ahmed Al Seneid, Areej Algahtani, Saleh Al Zahrani, Majid AlFadhel, Omar Aldibasi, Lamya Abdulaziz AlOmair, Rafah Bajudah, Abeer Nawaf Alanazie

المصدر: Annals of Saudi Medicine, Vol 42, Iss 2, Pp 107-118 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0256-4947; https://doaj.org/toc/0975-4466

URL الوصول: https://doaj.org/article/9a906e71a23e488d86d3fd640f43e3e8

المؤلفون: Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer, Marwa Abdelhakim, Senay Kafkas, Katsuhiko Mineta, Nicole Cheung, Abdallah Abdallah, Stine Büchmann-Møller, Yoshinori Fukasawa, Xiang Zhao, Issaac Rajan, Robert Hoehndorf, Fuad Al Mutairi, Takashi Gojobori, Majid Alfadhel

المصدر: BMC Medical Genomics, Vol 13, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Solo, Trio, Trio plus, Whole exome sequencing, Whole genome sequencing, Extending family analysis, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12920-020-00743-8; https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/02619d9deba348488774cc3033bd1377

المؤلفون: Fahad Al Juraibah, Ali Alothaim, Wafa Al Eyaid, Angham Nasser AlMutair

المصدر: Annals of Saudi Medicine, Vol 39, Iss 5, Pp 291-294 (2019)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0256-4947; https://doaj.org/toc/0975-4466

URL الوصول: https://doaj.org/article/0f606f1d7b60450cb05728bb84e369f2

المؤلفون: Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares

المصدر: Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 31-36 (2018)

مصطلحات موضوعية: report, variants, vcf, reassessment, genomic, genetic, ngs, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=302716; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/0a415b087bac4a0695cb539347cd3ba9

المؤلفون: Abdul Rafiq Khan, Ali Alothaim, Waleed Tamimi, Majid Alshaibani, Souad Marwan Al Enazi, Syed Muhammad Saad, Khalid Mohammed Khan

المصدر: American Journal of Analytical Chemistry. 13:289-299

مصطلحات موضوعية: Psychiatry and Mental health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1f8ccce98c80ea0d69aadd66445ceee2
https://doi.org/10.4236/ajac.2022.139020

المؤلفون: Angham Almutair, Ali Alothaim, Wafa Al Eyaid, Fahad Al Juraibah

المصدر: Annals of Saudi Medicine, Vol 39, Iss 5, Pp 291-294 (2019)
Annals of Saudi Medicine

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, endocrine system, Heel, endocrine system diseases, Thyrotropin, lcsh:Medicine, 030209 endocrinology & metabolism, Thyroid Function Tests, Thyroid function tests, Sensitivity and Specificity, Tertiary Care Centers, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, Thyroid-stimulating hormone, Predictive Value of Tests, medicine, Congenital Hypothyroidism, Humans, 030212 general & internal medicine, Retrospective Studies, Newborn screening, Blood Specimen Collection, medicine.diagnostic_test, business.industry, Thyroid, lcsh:R, Infant, Newborn, General Medicine, medicine.disease, Fetal Blood, Congenital hypothyroidism, body regions, Thyroxine, medicine.anatomical_structure, Cord blood, Predictive value of tests, Original Article, Female, business, hormones, hormone substitutes, and hormone antagonists

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0881dc56733d1b0b4246f79e9d2f0da2
https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2019.291

المؤلفون: Mohammed AlBalwi, Wafaa Eyaid, Fuad Al Mutairi, Ahmed Alfares, Majid Alfadhel, Saeed Alturki, Lamia Al subaie, Ali Alothaim, Ahmed Alahmad, Abdulrahman Alswaid, Ahmed Al Qudsi, Abdulelah Alissa, Taghrid Aloraini

المصدر: Genetics in Medicine. 20:1328-1333

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Clinical settings, Computational biology, Biology, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Humans, Exome, Child, Genetics (clinical), Exome sequencing, Whole genome sequencing, Comparative Genomic Hybridization, Variant Call Format, Whole Genome Sequencing, Genome, Human, Genetic Diseases, Inborn, 030104 developmental biology, Child, Preschool, Female, Detection rate, 030217 neurology & neurosurgery, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d452fb329a59240055171f7fa42ccc84
https://doi.org/10.1038/gim.2018.41

المؤلفون: Mohammed Al-Balwi, Abdulrahman Al Muitiri, Fuad Al Mutairi, Abdulrahman Alswaid, Taghrid Aloraini, Majid Alfadhel, Ahmed Alfares, Anar Alfarsi, Wafaa Eyaid, Ali Alothaim, Lamia Alsubaie, Rashed Alniwaider, Aqila Asinan

مصطلحات موضوعية: Computational biology, Biology, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::61bdf942daa117463f7b95053d0ae082
https://doi.org/10.21203/rs.3.rs-147916/v1

المؤلفون: Najla Al Hussain, Abdul Rafiq Khan, Ahmed Alfares, Ali Alothaim

المصدر: Journal of Biochemical and Clinical Genetics. :26-30

مصطلحات موضوعية: 0301 basic medicine, Detection limit, chemistry.chemical_classification, Chromatography, Chemistry, Maple syrup urine disease, 030105 genetics & heredity, medicine.disease, High-performance liquid chromatography, Amino acid, 03 medical and health sciences, 0302 clinical medicine, Alloisoleucine, Valine, medicine, Leucine, Isoleucine, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::632c75cdc1109e6febc1729acb8fad3c
https://doi.org/10.24911/jbcgenetics/183-1530358447