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1دورية أكاديمية
المؤلفون: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Osama Yousef Muthaffar, Sameera Sogaty, Hiba Alkhatabi, Sarah Almaghrabi, Adeel G. Chaudhary
المصدر: Frontiers in Pediatrics, Vol 8 (2021)
مصطلحات موضوعية: ASPM, primary microcephaly, whole exom sequencing, Saudi population, MCPH, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Muhammad Imran Naseer, Mahmood Rasool, Sameera Sogaty, Rukhaa Adeel Chaudhary, Haifa Mansour Mansour, Adeel G. Chaudhary, Adel M. Abuzenadah, Mohammad H. Al-Qahtani
المصدر: Annals of Saudi Medicine, Vol 37, Iss 2, Pp 148-153 (2017)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al-Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al-Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad-Hani Temsah, Maha Tulbah, Rasha F. Aljelaify, Saad A. Alshahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al-Hassnan, Ghada M.H. Abdel-Salam, Nouriya Al-Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al-Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman A. Aldeeri, Dorota M. Monies, Fowzan S. Alkuraya
المصدر: Cell Reports, Vol 10, Iss 2, Pp 148-161 (2015)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Ali Al Asmari, Maarab Alkorashy, Nawal Azhari, Zarghuna M.A. Shinwari, Mohammed Alhabdan, Saud Takroni, Walaa Alshuaibi, Sameera Sogaty, Ali Awaji, Faten Alhadeq, Aisha Alqahtani, Abdullah Alqwaee, Abduljabbar Alshenqiti, Ahmed Alomrani, Raghad Z. Al-Hassnan, Nadiah Alruwaili, Zuhair N. Al-Hassnan, Amal Alhashem, Fadel Al-Fadley, Waleed Al-Manea, Sahar Tulbah, Abdullah Alwadai, Abdulrahman Almesned, Malak Alghamdi, Majid Al-Fayyadh, Abdulrahman M. Bakhaider, Buthaina Albash, Dimpna C. Albert Brotons, Eissa Faqeih, Ahmad M. Al-Rashdan, Ali A. Al-Akhfash, Monther Rbabeh, Zainab Al humaidi, Salwa M. Alkhalifi
المصدر: Circulation: Genomic and Precision Medicine. 13:504-514
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Cardiomyopathy, Consanguinity, 030204 cardiovascular system & hematology, Biology, Genome, Genetic analysis, L-Aminoadipate-Semialdehyde Dehydrogenase, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Genetic Testing, Child, Founder mutation, Exome, Genetics, Heterogeneous group, Homozygote, Infant, Newborn, Infant, General Medicine, medicine.disease, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Child, Preschool, Female, Cardiomyopathies, Acetyl-CoA Carboxylase, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::decc785bfcf3f2b97db34796474e50d6
https://doi.org/10.1161/circgen.120.002969 -
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المؤلفون: Khushnooda Ramzan, Eman Al‐Mashharawi, Abdal H. Al‐Mazroea, Amal M. Hashem, Sibtain Afzal, Ameen Softah, Faiqa Imtiaz, Sameera Sogaty, Sultan Al‐Amer, Ghoson F. Al‐Otaibi, Lina Al‐Baik, Sulman Basit, Nouf S. Al-Numair, Sarah Al-Ageel, Mohammed Al-Owain
المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 183:172-180
مصطلحات موضوعية: Adult, Male, Linkage disequilibrium, Candidate gene, Adolescent, Genotype, Genetic Linkage, Hearing loss, Hearing Loss, Sensorineural, DNA Mutational Analysis, Population, Saudi Arabia, Single-nucleotide polymorphism, Consanguinity, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Young Adult, Cellular and Molecular Neuroscience, medicine, Humans, Age of Onset, Child, education, Genetics (clinical), Family Health, Genetics, Mutation, education.field_of_study, Genetic heterogeneity, Membrane Proteins, Exons, Pedigree, Psychiatry and Mental health, Phenotype, Haplotypes, Child, Preschool, Ear, Inner, Female, medicine.symptom, Genome-Wide Association Study
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المؤلفون: Muhammad Imran, Naseer, Angham Abdulrahman, Abdulkareem, Osama Yousef, Muthaffar, Sameera, Sogaty, Hiba, Alkhatabi, Sarah, Almaghrabi, Adeel G, Chaudhary
المصدر: Frontiers in Pediatrics
مصطلحات موضوعية: MCPH, primary microcephaly, whole exom sequencing, ASPM, Saudi population, Pediatrics, Original Research
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::77b1bdeb3596cb61441cef4e3356d382
https://pubmed.ncbi.nlm.nih.gov/33643967 -
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المؤلفون: Maha Tulba, Amal Alhashem, Ali Howaidi, Tarfa Alshidi, Sawsan R. Nowilaty, Abdullah Alfaifi, Mais Hashem, Mohammad Shagrani, Mustafa A. Salih, Rubina Khan, Dalal K. Bubshait, Maged H. Hussein, Essam Al Sabban, Maisoon Almugbel, Ranad Shaheen, Hisham Alkuraya, Nour Ewida, Mohammad A. Al Muhaizea, Eman Alobeid, Zuhair Rahbeeni, Jameel M. Alghamdi, Niema Ibrahim, Yasser Sabr, Sameera Sogaty, Elham Al-Mardawi, Neama Meriki, Khalid Alhazmi, Mona M. Alenazi, Mohammed Zain Seidahmed, Heba Morsy, Ebtesam M. Abdalla, Mohammed Mahnashi, Abrar K. Alsalamah, Fowzan S. Alkuraya, Ahmed Alfares, Hamad Al-Zaidan, Afaf Alsagheir, Alya Qari, Firdous Abdulwahab, Hanan E. Shamseldin, Mohammed Al–Owain
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(6)
مصطلحات موضوعية: Candidate gene, Cilium, Computational biology, Biology, medicine.disease, Genome, Phenotype, Ciliopathies, Human genetics, Sodium Channels, Stargardt disease, medicine, Humans, Cilia, Gene, Bardet-Biedl Syndrome, Genetics (clinical), Alleles
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المؤلفون: Badi S. Albaqawi, Sateesh Madirevula, Firdous Abdulwahab, Eissa Faqeih, Wesam Kurdi, Grace Yoon, Rana Alomar, Robert J. Hopkin, Mais Hashem, Bahauddin Sallout, Ikhlass Altweijri, Harry Lesmana, Wajeih Y. AlAali, Mohammed Zain Seidahmed, Nouf Ajaji, Niema Ibrahim, Elham Al-Mardawi, Roberto Mendoza-Londono, Nour Ewida, Eman Alobeid, Fowzan S. Alkuraya, Nisha Patel, Mohammed Adeeb Sebai, Hadeel Al Rukban, Ranad Shaheen, Lucie Dupuis, Tarfa Al-Sheddi, Sameera Sogaty, Abdulrahman M. Al-Nemri
المصدر: Annals of Neurology. 81:890-897
مصطلحات موضوعية: 0301 basic medicine, Genetics, Cerebellar ataxia, business.industry, Consanguinity, medicine.disease, Ciliopathies, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Neurology, Locus heterogeneity, medicine, Mendelian inheritance, symbols, Neurology (clinical), Allele, medicine.symptom, business, Exome, 030217 neurology & neurosurgery, Exome sequencing
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المؤلفون: Haifa Mansour, Rukhaa Adeel Chaudhary, Muhammad Imran Naseer, Adeel G. Chaudhary, Mahmood Rasool, Mohammad H. Al-Qahtani, Sameera Sogaty, Adel M. Abuzenadah
المصدر: Annals of Saudi Medicine, Vol 37, Iss 2, Pp 148-153 (2017)
مصطلحات موضوعية: Male, 0301 basic medicine, Developmental defect, Primary microcephaly, Mutation, Missense, Saudi Arabia, lcsh:Medicine, Cell Cycle Proteins, Nerve Tissue Proteins, Consanguinity, Young Adult, 03 medical and health sciences, Intellectual Disability, Humans, Medicine, Missense mutation, Exome, Child, Genetics, business.industry, lcsh:R, Amino acid substitution, General Medicine, Cross-Sectional Studies, 030104 developmental biology, Reduced brain size, Amino Acid Substitution, Mutation (genetic algorithm), Microcephaly, Female, business
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المؤلفون: Ranad, Shaheen, Mohammed Adeeb, Sebai, Nisha, Patel, Nour, Ewida, Wesam, Kurdi, Ikhlass, Altweijri, Sameera, Sogaty, Elham, Almardawi, Mohammed Zain, Seidahmed, Abdulrahman, Alnemri, Sateesh, Madirevula, Niema, Ibrahim, Firdous, Abdulwahab, Mais, Hashem, Tarfa, Al-Sheddi, Rana, Alomar, Eman, Alobeid, Bahauddin, Sallout, Badi, AlBaqawi, Wajeih, AlAali, Nouf, Ajaji, Harry, Lesmana, Robert J, Hopkin, Lucie, Dupuis, Roberto, Mendoza-Londono, Hadeel, Al Rukban, Grace, Yoon, Eissa, Faqeih, Fowzan S, Alkuraya
المصدر: Annals of neurology. 81(6)
مصطلحات موضوعية: Male, Infant, Membrane Proteins, Genes, Recessive, Nerve Tissue Proteins, Sequence Analysis, DNA, Pedigree, Cohort Studies, Consanguinity, Child, Preschool, Mutation, Humans, Exome, Female, Carrier Proteins, Child, Microtubule-Associated Proteins, Hydrocephalus
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