المؤلفون: Faiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, Khushnooda Ramzan, Nada Al-Tassan, Asma I. Tahir, Nouf S. Al-Numair, Mohamed H. Al-Hamed, Zuhair Al-Hassnan, Mohammad Al-Owain, Hamad Al-Zaidan, Mohammad Al-Amoudi, Alya Qari, Ameera Balobaid, Moeenaldeen Al-Sayed

المصدر: Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 17-23 (2017)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426917300150; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/3737df0c637345fc8702c25f3271d363

المؤلفون: Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan

المصدر: Genes, Vol 9, Iss 5, p 267 (2018)

مصطلحات موضوعية: inherited diseases, mutations, gene panel, targeted NGS, AmpliSeq Inherited Disease Panel, Saudi Human Genome Program database, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2073-4425/9/5/267; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/2a07d7b996bd492e89de5f29ef25e129

المؤلفون: Bashayer R Al-Mubarak, Saeed A Bohlega, Thamer S Alkhairallah, Amna I Magrashi, Maha I AlTurki, Dania S Khalil, Basma S AlAbdulaziz, Hussam Abou Al-Shaar, Abeer E Mustafa, Eman A Alyemni, Bashayer A Alsaffar, Asma I Tahir, Nada A Al Tassan

المصدر: PLoS ONE, Vol 10, Iss 8, p e0135950 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4537238?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f62aea7f0947470ea1bff78fbff8926b

المؤلفون: Sibtain, Afzal, Khushnooda, Ramzan, Ihsanullah, Khan, Anhar, Ullah, Asma I, Tahir, Shaiqa, Ramzan, Sajjad, Ullah, Arshad, Jamal, Muhammad, Absar, Sulman, Basit, Ahmed Bilal, Waqar

المصدر: Pakistan journal of pharmaceutical sciences. 33(6(Supplementary))

مصطلحات موضوعية: Adult, Genotype, Thymic Stromal Lymphopoietin, Prevalence, Cytokines, Humans, Female, Genetic Predisposition to Disease, Pakistan, Polymorphism, Single Nucleotide, Alleles, Asthma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1a0746def804e30fba2f9f5d88d93d2a
https://pubmed.ncbi.nlm.nih.gov/33879431

المؤلفون: Mohammad Al-Amoudi, Faiqa Imtiaz, Mohammad Al-Owain, Nouf S. Al-Numair, Mohamed H Al-Hamed, Asma I. Tahir, Abeer Al-Mostafa, Hamad Al-Zaidan, Ameera Balobaid, Rabab Allam, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Nada Al-Tassan, Zuhair N. Al-Hassnan, Alya Qari

المصدر: Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 17-23 (2017)

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, lcsh:R5-920, business.industry, Maple syrup urine disease, BCKDHB, nutritional and metabolic diseases, BCKDHA, medicine.disease, medicine.disease_cause, 03 medical and health sciences, 030104 developmental biology, Endocrinology, lcsh:Biology (General), Inborn error of metabolism, medicine, Mutation testing, Coding region, business, lcsh:Medicine (General), Molecular Biology, Gene, lcsh:QH301-705.5

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e4886650c1110b943c491777cbde858
http://www.sciencedirect.com/science/article/pii/S2214426917300150

المؤلفون: Malak Alghamdi, Fahad A. Bashiri, Dima Z. Jamjoom, Ghada Al-Nafisah, Mohamed Abdouelhoda, Asma I. Tahir, Waleed H. Alkhamis

المصدر: European journal of medical genetics. 63(5)

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Pathology, medicine.medical_specialty, Chromosomal Proteins, Non-Histone, Intestinal Atresia, 030105 genetics & heredity, 03 medical and health sciences, Holoprosencephaly, Genotype, Genetics, Medicine, Humans, Eye Abnormalities, Child, Genetics (clinical), Exome sequencing, business.industry, CENPF Gene, Intestinal atresia, Homozygote, Microfilament Proteins, Infant, General Medicine, medicine.disease, Pedigree, Ciliopathy, 030104 developmental biology, Phenotype, Atresia, Mutation, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7c54bc575f791696c6102b11d314173
https://pubmed.ncbi.nlm.nih.gov/31953238

المؤلفون: Mohamed Abouelhoda, John A. Sayer, Maha Alnemer, Dorota Monies, Maha Tulbah, Nada Al-Tassan, Salma Majid, Haya Al-Jurayb, Ahmed Alahmed, Mamdouh Albaqumi, Brian F. Meyer, Nada Alsahan, Dania S. Khalil, Mohamed H Al-Hamed, Basma Al Abdulaziz, Faisal S. BinHumaid, Rania Abudraz, Wesam Kurdi, Mohamed El-Kalioby, Noel Edwards, Asma I. Tahir, Zainab Alabdullah, Rubina Khan, Tariq Faquih

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Heart malformation, Perinatal Death, DNA Mutational Analysis, Saudi Arabia, 030105 genetics & heredity, CC2D2A, 03 medical and health sciences, Cystic kidney disease, Fetus, Pregnancy, Molecular genetics, Genotype, Genetics, Humans, NIMA-Related Kinases, Medicine, Genetics (clinical), Exome sequencing, Cystic kidney, Developmental Defects, business.industry, Infant, Newborn, Proteins, Exons, Syndrome, Kidney Diseases, Cystic, medicine.disease, Ciliopathies, Arabs, Cytoskeletal Proteins, Ciliopathy, 030104 developmental biology, Mutation, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f95f0d1dfcafd00aaf7b2bf67d7639
https://doi.org/10.1136/jmedgenet-2015-103469

المؤلفون: Malak Alghamdi, Susan Alhumaidi, Saeed Altala, Mirna Assoum, Aziza Chedrawi, Moeen Al-Sayed, Hisham Aldhalaan, Suzan A AlKhater, M. Abouelhoda, Turki Alshareef, Maha Alotaibi, Khalid S. Alqadi, Alya Alkaff, Syed Ahmed, Musad Abu Khaled, Suad Al Yamani, Bassem Albeirouti, Ali Al-Mehaidib, Walaa Alshuaibi, Nawal Makhseed, Ghada M H Abdel-Salam, Ewa Goljan, Zuhair Rahbeeni, Maisoon Almugbel, Shaza Makki, Ranad Albar, Fuad Al Mutairi, Khalid Alsaleem, Hanaa Banjar, Fahad A. Bashiri, Abdulaziz Bin Manee, Mona Alsaleh, Marwan Shaheen, Mohammed Fawzy, Sami Wali, Fahad Almohareb, Hisham Alkuraya, Shakir Bahzad, Ayman Shawli, Wesam Kurdi, Wajeeh Aldekhail, Somaya Alzelaye, Rand Arnaout, Abdullah Alsonbul, Sami Al-Hajjar, Saeed Hassan, Sameena Khan, Mohammed AlBalwi, Khalid Awartani, Sulaiman M. Al-Mayouf, Amal Alhashem, Hamoud Al-Mousa, Abdulaziz Alsemari, Hadeel Elbardisy, Mohamed El-Kalioby, Edward Cupler, Bandar Al-Saud, Hadeel Alghamdi, Isam Salih, Saadeh Sermin, Fahad Alsohaibaini, Shapar Nahrir, Hibah Alruwaili, Hamad Al-Zaidan, Nada Alsahan, Abdullah Alfaifi, Dalal K. Bubshait, Mohammed Nasr, Ahmed Alnahari, Ameen Tajuddin, Maged H. Hussein, Muddathir H Hamad, Asma Akilan, Afaf Alsagheir, Dorota Monies, Shamsad Shahrukh, Emadia Alaki, Tariq Abalkhail, Ahmed Sahly, Hamsa T. Tayeb, Badi Alenazi, Fowzan S. Alkuraya, Mohammed Al-Owain, Mohammed Abanemai, Ali Al-Ahmari, Maha Faden, Neama Meriki, Amal Alqasmi, Talal A. Basha, Hatem Murad, Hanna Akleh, Nabil Moghrabi, Asma I. Tahir, Abdulhadi Altalhi, Amal Jaafar, Ola Jarrad, Salah Baz, Abdullah Tamim, Ibraheem F. Abosoudah, Shazia Subhani, Manal Badawi, Raashida Sulaiman, Essam Al-Sabban, Brian F. Meyer, Talal Algoufi, Alya Qari, Mohammed Mahnashi, Hasan Al-Dhekri, Saeed Bohlega, Rafiullah Rafiullah, Naif A.M. Almontashiri, Mustafa A. Salih, Shahrukh K. Hashmi, Ibrahim Ghemlas, Zeeshan Shah, Abdullah Alashwal, Ehab Tous

المصدر: The American Journal of Human Genetics. 105:879

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Population, Saudi Arabia, Germline mosaicism, Genes, Recessive, Consanguinity, 030105 genetics & heredity, Biology, Article, Cohort Studies, 03 medical and health sciences, Pregnancy, Genotype, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Allele, education, Child, Exome, Exome sequencing, Genetics (clinical), education.field_of_study, Homozygote, Correction, Genetic Diseases, X-Linked, 030104 developmental biology, Phenotype, Mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0365855d2d5af752e8f99d9baffcda1e
https://doi.org/10.1016/j.ajhg.2019.09.019

المؤلفون: Batoul Baz, Maie Alshahid, Editha Andres, Nada Al-Tassan, Nzioka P. Muiya, Brian F. Meyer, Nduna Dzimiri, Mohammed Al-Najai, Olyan Al-Boudari, Asma I. Tahir, Salma M. Wakil

المصدر: Gene. 544:152-158

مصطلحات موضوعية: Male, Risk, medicine.medical_specialty, Genotype, Hypercholesterolemia, Population, Single-nucleotide polymorphism, Coronary Artery Disease, Biology, Polymorphism, Single Nucleotide, Coronary artery disease, Gene Frequency, Risk Factors, Internal medicine, Hyperlipidemia, Genetics, medicine, Humans, SNP, Genetic Predisposition to Disease, Obesity, education, Genetic Association Studies, Dyslipidemias, education.field_of_study, Base Sequence, Haplotype, Confounding, Genetic Variation, Sequence Analysis, DNA, General Medicine, Middle Aged, Atherosclerosis, medicine.disease, GATA2 Transcription Factor, Endocrinology, Diabetes Mellitus, Type 2, Haplotypes, Hypertension, Female, Gene polymorphism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5da77fbd14f29ed42cdc5522f19da5f
https://doi.org/10.1016/j.gene.2014.04.064

المؤلفون: Nada Al-Tassan, Asma I. Tahir, Saeed Bohlega, Jameela Shinwari

المصدر: Advances in Biological Chemistry. :408-417

مصطلحات موضوعية: Mutation, Protein subunit, In silico, Mutant, Wild type, Biology, medicine.disease_cause, Ligand (biochemistry), Molecular biology, Cell biology, medicine, Pharmacology (medical), PI3K/AKT/mTOR pathway, PIK3CG

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d6b2a47657b3b9ffec83ba9dc4722859
https://doi.org/10.4236/abc.2013.34044