المؤلفون: Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares

المصدر: Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: exome sequencing, deletion duplication, methylation, mitochondrial genome, saudi arabia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=95398; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/2aa7b28133b04d7c89c33bce75dc89be

المؤلفون: Mohammed Alyahya, Taghrid Aloraini, Youseef Al-Harbi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares

المصدر: Journal of Biochemical and Clinical Genetics, Vol 5, Iss 2, Pp 37-42 (2022)

مصطلحات موضوعية: saudi arabia, non-consanguineous, es, hit rate, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=119085; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/0004dfbc766b4b9f9f11a9c6335bc509

المؤلفون: Mariam Aleissa, Taghrid Aloraini, Lamia Fahad Alsubaie, Madawi Hassoun, Ghada Abdulrahman, Abdulrahman Swaid, Wafa Al Eyaid, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares

المصدر: Annals of Saudi Medicine, Vol 42, Iss 1, Pp 29-35 (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/de62a04401dc4de4bc6a1eb3df8ab238

المؤلفون: Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares

المصدر: Journal of Biochemical and Clinical Genetics, Vol 4, Iss 2, Pp 70-75 (2021)

مصطلحات موضوعية: carrier screening, variants, saudi population, exome sequencing, common genetic variation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=59134; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/0aeb3ca91b1e4af2bbf35d3e5be48d9f

المؤلفون: Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, Mohammed Elamin, Ahmed Alfares, Ali Al Othaim, Muhammad Umair, Hind Ahmed, Faroug Ababneh, Fuad Al Mutairi, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Mohammed Almannai, Majed Aljeraisy, Bayan Albdah, Mohamed A. Hussein, Zuhair Rahbeeni, Ali Alasmari

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Carglumic acid, Hyperammonemia, Methylmalonic academia, Organic academia, Propionic acidemia, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/02b629d14359496d9729b89471e20a09

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: Anar Alfarsi, Majid Alfadhel, Seham Alameer, Amal Alhashem, Brahim Tabarki, Faroug Ababneh, Ahmed Al Fares, Fuad Al Mutairi

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100817- (2021)

مصطلحات موضوعية: Dihydrolipoamide dehydrogenase deficiency, Lactic acidosis, Hypoglycemia, Pyruvate dehydrogenase complex, Flavoprotein and E3, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921001129; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/c4b2ccc840924523844974e84f463f3a

المؤلفون: Marwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, Mohammed Saleh, Mohammed Elamin, Hind Ahmed, Faroug Ababneh, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Majed Aljeraisy, Mohamed A. Hussein, Ali Alasmari, Majid Alfadhel

المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Carbaglu®, Carglumic acid, Hyperammonemia, Methylmalonic acidemia, Propionic acidemia, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-019-1571-y; https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/adefaa0f5edb41a8906c78bac2262559

المؤلفون: Faroug Ababneh, Marwan Nashabat, Majid Alfadhel

المصدر: Journal of Biochemical and Clinical Genetics, Vol 2, Iss 1, Pp 65-69 (2019)

مصطلحات موضوعية: bainbridge-robers syndrome, asxl3 gene, psychomotor delay, hypotonia, dysmorphic features, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=1491; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/15122848c3ae4fd38bca6111c738f4f0

المؤلفون: Majid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Ahmed Alfares, Brahim Tabarki

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: leukodystrophy, Saudi Arabia, neurometabolic, metachromatic leukodystrophy, novel mutations, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.633385/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/16784d501eb142d69ee3665c6c73dd51

المؤلفون: Hisham Arabi, Amir Babiker, Asma M Awadalla, Faroug Ababneh, Maha A AlMuneef

المصدر: Cureus.

مصطلحات موضوعية: General Engineering

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::be90e0b768c1682d4194c3ea325ef433
https://doi.org/10.7759/cureus.33224

المؤلفون: Ahmed Alfares, Faroug Ababneh, Abdulrahman Alswaid, Taghrid Aloraini, Mariam Al Eissa, Wafaa Eyiad, Fuad Al Mutairi, Majid Alfadhel, Lamia Alsubaie

المصدر: Journal of Biochemical and Clinical Genetics. :70-75

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, education.field_of_study, Newborn screening, business.industry, Maple syrup urine disease, education, Population, Genetic Carrier Screening, General Medicine, medicine.disease, Additional research, medicine, Propionic acidemia, Allele, business, geographic locations, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bae412a1950b1ce4c0f8104ec8a66891
https://doi.org/10.24911/jbcgenetics/183-1614266028

المؤلفون: Majid Alfadhel, Anar Alfarsi, Ahmed Al Fares, Faroug Ababneh, Brahim Tabarki, Fuad Al Mutairi, Seham Alameer, Amal Alhashem

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100817-(2021)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: KAIMRC, King Abdullah International Medical Research Centre, IRB, Institutional Review Board, medicine.medical_specialty, Medicine (General), Ataxia, MRI, Magnetic resonance imaging, QH301-705.5, Population, education, Disease, Hypoglycemia, Gastroenterology, Endocrinology, R5-920, Pyruvate dehydrogenase complex, Internal medicine, Genetics, Medicine, Dihydrolipoamide dehydrogenase deficiency, BCKDH, Branched-chain a-keto acid dehydrogenase, Biology (General), BCAAs, Branched Chain Amino Acids, Molecular Biology, education.field_of_study, Dihydrolipoamide dehydrogenase, Flavoprotein and E3, business.industry, Lactic acidosis, Metabolic disorder, DCA, Dichloroacetate, medicine.disease, Hypotonia, Cohort, PDH, Pyruvate dehydrogenase, medicine.symptom, αKGDH, alpha-ketoglutarate dehydrogenase, business, DLDD, Dihydrolipoamide Dehydrogenase Deficiency, WES, Whole Exome Sequencing, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2145df4188590e417a2497adf277730
http://www.sciencedirect.com/science/article/pii/S2214426921001129

المؤلفون: Taghrid Aloraini, Abdulrhman Aljouie, Rashed Alniwaider, Wardah Alharbi, Lamia Alsubaie, Wafaa AlTuraif, Waseem Qureshi, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares

المصدر: Computers in biology and medicine. 145

مصطلحات موضوعية: Machine Learning, Artificial Intelligence, Humans, Health Informatics, Software, Computer Science Applications

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f47f5c8e5b3b09ea4c5d3dd668c7bd83
https://pubmed.ncbi.nlm.nih.gov/35585733

المؤلفون: Majid Alfadhel, Marwan Nashabat, Faroug Ababneh

المصدر: Journal of Biochemical and Clinical Genetics. :65-69

مصطلحات موضوعية: Genetics, Whole genome sequencing, business.industry, Disease, medicine.disease, Hypotonia, Failure to thrive, Intellectual disability, medicine, Global developmental delay, medicine.symptom, business, Exome, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d5d871e925962c00d6e4ffd85928aca5
https://doi.org/10.24911/jbcgenetics/183-1532439299

المؤلفون: Majid Alfadhel (5531333), Mohammed Almuqbil (10792740), Fuad Al Mutairi (9929217), Muhammad Umair (4062583), Mohammed Almannai (10792743), Malak Alghamdi (10657583), Hamad Althiyab (10792746), Rayyan Albarakati (10792749), Fahad A. Bashiri (6919919), Walaa Alshuaibi (10792752), Duaa Ba-Armah (10792755), Mohammed A. Saleh (10792758), Ali Al-Asmari (10792761), Eissa Faqeih (3416633), Waleed Altuwaijri (10792764), Ahmed Al-Rumayyan (10792767), Mohammed Ali Balwi (10792770), Faroug Ababneh (9138353), Abdulrahman Faiz Alswaid (10792773), Wafaa M. Eyaid (10792776), Naif A. M. Almontashiri (10304852), Amal Alhashem (3469799), Khalid Hundallah (10792779), Aida Bertoli-Avella (10792782), Peter Bauer (524851), Christian Beetz (499802), Muhammad Talal Alrifai (5531336), Ahmed Alfares (6800642), Brahim Tabarki (3469763)

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, leukodystrophy, Saudi Arabia, neurometabolic, metachromatic leukodystrophy, novel mutations

Relation: https://figshare.com/articles/figure/Image_1_The_Leukodystrophy_Spectrum_in_Saudi_Arabia_Epidemiological_Clinical_Radiological_and_Genetic_Data_jpg/14584947

الاتاحة: https://doi.org/10.3389/fped.2021.633385.s001

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

مصطلحات موضوعية: Data_FILES

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d19f7760d4ecbabba92dd5cd98a0b59

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

مصطلحات موضوعية: Data_FILES

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25810a3327a80d749d74a1a188fd4329

المؤلفون: Aleissa, Mariam, Aloraini, Taghrid, Alsubaie, Lamia Fahad, Hassoun, Madawi, Abdulrahman, Ghada, Swaid, Abdulrahman, Al Eyaid, Wafa, Al Mutairi, Fuad, Faroug Ababneh, Alfadhel, Majid, Alfares, Ahmed, Eyaid, Wafa Al, Mutairi, Fuad Al, Ababneh, Faroug

المصدر: Annals of Saudi Medicine; Jan/Feb2022, Vol. 42 Issue 1, p29-35, 7p

المؤلفون: Michael J. Dixon, Martine Dunnwald, Lamia Alsubaie, Jennifer Standley, Gaik Siew Ch'ng, A. Jeannette M. Hoogeboom, James O'Sullivan, Jeffrey C. Murray, Elizabeth J. Leslie, Pawina Jiramongkolchai, Ingrid M B H van der Laar, Seema Kapoor, Faroug Ababneh, Ankur Singh, Steven Goudy, J. Robert Manak, Michael L. Cunningham

المساهمون: Clinical Genetics

المصدر: American Journal of Medical Genetics Part A, 167(3), 545-552. Wiley-Liss Inc.

مصطلحات موضوعية: Male, Knee Joint, Cleft Lip, DNA Mutational Analysis, Genes, Recessive, Protein Serine-Threonine Kinases, Article, Fingers, Autosomal recessive popliteal pterygium syndrome, Genetics, medicine, Humans, Exome, Knee, Eye Abnormalities, Syndactyly, Popliteal pterygium, Genetic Association Studies, Genetics (clinical), Exome sequencing, Comparative Genomic Hybridization, business.industry, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, Uniparental disomy, eye diseases, I-kappa B Kinase, Pedigree, Cleft Palate, Phenotype, Popliteal pterygium syndrome, Urogenital Abnormalities, Interferon Regulatory Factors, Mutation, Female, IRF6, business, Genome-Wide Association Study, Lower Extremity Deformities, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d977fcbe3d16d7b2f4a616f40139aa83
https://doi.org/10.1002/ajmg.a.36896