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1دورية أكاديمية
المؤلفون: J Jaime Miranda, Liming Li, Adnan A Hyder, Salim S Virani, Bente Mikkelsen, Robert Marten, Srinath Reddy, Ishu Kataria, Rachel Nugent, Tiina Laatikainen, Sarah Rylance, Yodi Mahendradhata, Richard Sullivan, Valery Feigin, Valery L Feigin, Mayowa Owolabi, K Srinath Reddy, Abeer Al Saegh, Liming Lee
المصدر: BMJ Global Health, Vol 8, Iss 11 (2023)
مصطلحات موضوعية: Medicine (General), R5-920, Infectious and parasitic diseases, RC109-216
وصف الملف: electronic resource
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المؤلفون: Abdulhamid Al‐Hinai, Samiya Al‐Hashmi, Anuradha Ganesh, Nadia Al‐Hashmi, Abeer Al‐Saegh, Watfa Al‐Mamari, Fathiya Al‐Murshedi, Khalid Al‐Thihli, Adila Al‐Kindi, Almundher Al‐Maawali
المصدر: American Journal of Medical Genetics Part A. 188:2485-2490
مصطلحات موضوعية: Genetics, Genetics (clinical)
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3
المؤلفون: Ghalia, Al-Kasbi, Fathiya, Al-Murshedi, Adila, Al-Kindi, Nadia, Al-Hashimi, Khalid, Al-Thihli, Abeer, Al-Saegh, Amna, Al-Futaisi, Watfa, Al-Mamari, Abdullah, Al-Asmi, Zandre, Bruwer, Khalsa, Al-Kharusi, Samiya, Al-Rashdi, Fahad, Zadjali, Said, Al-Yahyaee, Almundher, Al-Maawali
المصدر: Scientific Reports. 12
مصطلحات موضوعية: Phenotype, Peptide Elongation Factor 1, Multidisciplinary, Intellectual Disability, F-Box Proteins, Exome Sequencing, Mutation, Humans, Membrane Proteins, Receptors, Cytoplasmic and Nuclear, Genes, Recessive, Pedigree, Adaptor Proteins, Signal Transducing
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المؤلفون: Tariq Al-Jabry, Abeer Al-Saegh, Ghalia Al-Kasbi, Almundher Al-Maawali, Fahad Zadjali, Ahmed Al-Qassabi, Said Al-Yahyaee
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Sanger sequencing, Genetics, Messenger RNA, Parkinsonism, Brief Report, Biology, medicine.disease, Frameshift mutation, Reverse transcription polymerase chain reaction, symbols.namesake, Exon, Neurology, Intellectual disability, medicine, symbols, Neurology (clinical), Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37144a95c45d9e3783bbea841ccbeb67
https://europepmc.org/articles/PMC8564806/ -
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المؤلفون: Fathiya Al-Murshedi, Abeer Al-Saegh, Amna Al-Futaisi, Saleh Baawain, Almundher Al-Maawali, Hassan Mirza, Maryam Al-Nabhani, Wafaa Al-Shehhi, Saud Al-Shabibi
مصطلحات موضوعية: Immunology, Fowler syndrome, Biology, Phenotype
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6f6c386a58a03ebc58a4d7c25aca46a4
https://doi.org/10.1111/cge.13838/v2/response1 -
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المؤلفون: Abeer Al-Saegh, Amna Al-Futaisi, Saud Al-Shabibi, Hassan Mirza, Maryam Al-Nabhani, Wafaa Al-Shehhi, Fathiya Al-Murshedi, Saleh Baawain, Almundher Al-Maawali
المصدر: Clinical genetics. 98(5)
مصطلحات موضوعية: Adult, Male, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Adolescent, business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Fowler syndrome, Membrane Transport Proteins, Virology, Phenotype, Hydranencephaly, Young Adult, Child, Preschool, Genetics, Medicine, Humans, Receptors, Virus, Female, Genetic Predisposition to Disease, business, Child, Genetics (clinical)
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المؤلفون: Vijaya Ramesh, D. Gareth Evans, Susan M Huson, Jaishri O. Blakeley, Joshi George, Ludwine Messiaen, Ype Elgersma, Rick van Minkelen, Pierre Wolkenstein, Eric Legius, Meena Upadhyaya, Shay Ben-Shachar, Anup Raji, Bruce R. Korf, Ratna Dua Puri, Katherine A. Rauen, Luis F. Parada, Miikka Vikkula, Brigitte C. Widemann, Shubha R. Phadke, Sheetal Sharda, Sheela Nampoothiri, Michael Fisher, Isabel Cordeiro, Abeer Al-Saegh, Ashok Pillai, Ian M. Frayling, Suma P. Shankar, Nancy Ratner, Scott R. Plotkin, Yemima Berman, Anant Tambe, Uday Khire, Bronwyn Kerr, Joanne Ngeow
المساهمون: Lee Kong Chian School of Medicine (LKCMedicine), First International Conference on RASopathies and Neurofibromatoses in Asia, Neurosciences
المصدر: Am J Med Genet A
American journal of medical genetics. Part A, vol 179, iss 6
American Journal of Medical Genetics Part A, 179(6), 1091-1097. Wiley-Liss Inc.مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Biomedical, Neurofibromatoses, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, 030105 genetics & heredity, RASopathy, Article, Neurofibromatosis, 03 medical and health sciences, Congenital, Rare Diseases, Costello syndrome, Translational Research, medicine, Genetics, Humans, Genetic Predisposition to Disease, Medicine [Science], Molecular Targeted Therapy, Schwannomatosis, Genetics (clinical), Genetic Association Studies, Legius syndrome, Pediatric, therapy, business.industry, Neurosciences, Disease Management, signal transduction pathway, medicine.disease, Dermatology, Clinical Trial, Brain Disorders, 030104 developmental biology, Molecular Diagnostic Techniques, ras Proteins, Noonan syndrome, Mitogen-Activated Protein Kinases, business, Noonan Syndrome with Multiple Lentigines, Biomarkers, Signal Transduction
وصف الملف: application/pdf
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المؤلفون: Fathiya Al-Murshedi, Almundher Al-Maawali, Maryam Al-Nabhani, Amna Al-Futaisi, Abeer Al-Saegh, Samiya Al-Rashdi, Fahad Zadjali, Khalid Al-Thihli, Watfa Al-Mamari, Adila Al-Kindi
المصدر: Clinical genetics. 94(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Genotype, Computational biology, Biology, DNA sequencing, Novel gene, 03 medical and health sciences, Consanguinity, Intellectual Disability, Intellectual disability, Exome Sequencing, Genetics, medicine, Humans, Exome, Functional studies, Child, Genetics (clinical), Exome sequencing, Alleles, Genetic Databases, Infant, medicine.disease, Pedigree, 030104 developmental biology, Phenotype, Amino Acid Substitution, Child, Preschool, Mutation, Female, Genome-Wide Association Study
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المؤلفون: Manir Ali, Khalsa Al Lamki, Mohammed E El-Asrag, Ahlam Gabr, Chris F. Inglehearn, Mazin Al Khabouri, Mohammed Al-Kindi, Ahmed H Al-Amri, Ahmed B. Idris, Nadia Al Wardy, Steven J. Clapcote, Abeer Al Saegh, Watfa Al-Mamari
المصدر: European journal of medical genetics. 62(12)
مصطلحات موضوعية: Male, Hearing loss, Population, Mutation, Missense, Biology, Deafness, symbols.namesake, otorhinolaryngologic diseases, Genetics, medicine, Humans, education, Child, Gene, Genetics (clinical), Exome sequencing, Sanger sequencing, education.field_of_study, Siblings, Homozygote, Membrane Proteins, General Medicine, Disease gene identification, Child, Preschool, Mutation (genetic algorithm), symbols, medicine.symptom, Non syndromic
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المؤلفون: Watfa Al-Mamari, Fathiya Al-Murshedi, Abeer Al-Saegh, Adila Al-Kindy, Khalid Al-Thihli, Zandre Bruwer
المصدر: Journal of Autism and Developmental Disorders. 45:2323-2328
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Adolescent, DNA Copy Number Variations, Oman, Autism Spectrum Disorder, Developmental Disabilities, Population, Comorbidity, Consanguinity, Cohort Studies, Intellectual Disability, Developmental and Educational Psychology, Humans, Medicine, Abnormalities, Multiple, Heritability of autism, Copy-number variation, Child, Psychiatry, education, Oligonucleotide Array Sequence Analysis, education.field_of_study, business.industry, Microarray analysis techniques, Middle Aged, medicine.disease, Cross-Sectional Studies, Child, Preschool, Cohort, Etiology, Autism, Female, business
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