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1
المؤلفون: Ali Mir, Montaha AlMudhry, Wajd AlOtaibi, Rami AlHazmi, Raidah AlBaradie, Qasim AlHarbi, Shahid Bashir, Omar Chamdine, Yousef Housawi
المصدر: Journal of Pediatric Hematology/Oncology.
مصطلحات موضوعية: Oncology, Pediatrics, Perinatology and Child Health, Hematology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::539b34475213b982209c846d50da1231Test
https://doi.org/10.1097/mph.0000000000002641Test -
2
المؤلفون: Ali, Mir, Fawzia, Amer, Mona, Ali, Wajd, Alotaibi, Manar, Alotaibi, Abdullah, Hedaithy, Fatimah, Aldurayhim, Fatimah, Hussain, Shahid, Bashir, Yousef, Housawi
المصدر: Clinical EEG and neuroscience.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d1c2d4112122a8c21f0d2d109ad7fd05Test
https://pubmed.ncbi.nlm.nih.gov/35815844Test -
3
المؤلفون: Yousef Housawi, Salma Abdelhay, Fatimah Aldurayhim, Mona Ibrahim, Fouad Al-Ghamdi, Ali Mir, Raidah Albaradie, Maryam Bawazir, Mushari Alamr, Montaha Almudhry, Abdullah Alhedaithy, Shahid Bashir, Sahar Mohammad
المصدر: Human genetics. 141(1)
مصطلحات موضوعية: Male, Adolescent, Autism Spectrum Disorder, medicine.medical_treatment, Hearing Loss, Sensorineural, Population, Bulbar Palsy, Progressive, Saudi Arabia, Gene mutation, Bioinformatics, Epilepsy, Asian People, Intellectual Disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Hyperekplexia, education, Child, Basal ganglia disease, Genetics (clinical), Solute Carrier Proteins, education.field_of_study, biology, SLC1A2, Brain, Infant, Membrane Transport Proteins, medicine.disease, Phenotype, Child, Preschool, SLC19A3, Mutation, biology.protein, Female, medicine.symptom, Ketogenic diet
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::249e06969ad40c727e01eff6796ff638Test
https://pubmed.ncbi.nlm.nih.gov/34797406Test -
4
المؤلفون: Shahid Bashir, Ali Mir, Yousef Housawi, Safeya Hadab, Mohammed Sammak, Rami Alhazmi
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Epileptic spasms, business.industry, medicine, 3-Methylglutaconic Aciduria, Gene mutation, business, medicine.disease, Complete resolution, Vigabatrin, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8a3c84a564c96165515241bc29269174Test
https://doi.org/10.1111/cge.13763/v2/response1Test -
5
المؤلفون: Patrick M. A. Sleiman, Michael E. March, Mohamed Sager, Cuiping Hou, Lifeng Tian, Renata Pellegrino, Kenny Nguyen, Hakon Hakonarson, Yousef Housawi, Walid Dridi
المصدر: Human Mutation. 38:507-510
مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Genotype, DNA Mutational Analysis, Saudi Arabia, Kinesins, Biology, medicine.disease_cause, 03 medical and health sciences, Gene Frequency, Genocopy, Genetics, medicine, Humans, Agenesis of the corpus callosum, Alleles, Genetic Association Studies, Growth Disorders, Genetics (clinical), Loss function, Sequence (medicine), Mutation, Pierre Robin Syndrome, KIF15, Facies, Congenital thrombocytopenia, medicine.disease, Thrombocytopenia, Pedigree, Phenotype, 030104 developmental biology, Child, Preschool, Female, Agenesis of Corpus Callosum
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abd60090452f986c530cca0802f638dTest
https://doi.org/10.1002/humu.23188Test -
6
المؤلفون: Mohammed Sammak, Shahid Bashir, Ali Mir, Yousef Housawi, Rami Alhazmi, Safeya Hadab
المصدر: Clinical Genetics. 98:102-103
مصطلحات موضوعية: Epileptic spasms, business.industry, Genetics, medicine, 3-Methylglutaconic Aciduria, Gene mutation, Bioinformatics, business, medicine.disease, Complete resolution, Genetics (clinical), Vigabatrin, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a81d3efa57f867c4f08c19e293137490Test
https://doi.org/10.1111/cge.13763Test -
7
المؤلفون: Raidah Albaradie, Hani Alkhaldi, Yousef Housawi, Ali Mir, Rami Alhazmi, Mohammed W Chaudhary
المصدر: Braindevelopment. 41(8)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, biology, business.industry, General Medicine, KCNJ10, medicine.disease, Epilepsy, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, EAST syndrome, biology.protein, In patient, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::941005071ed6ce961eb1f37dc0306e3fTest
https://pubmed.ncbi.nlm.nih.gov/30952461Test -
8
المؤلفون: Rami Alhazmi, Mohammed W Chaudhary, Yousef Housawi, Raidah Albaradie, Ali Mir, Hani Alkhaldi
المصدر: Braindevelopment. 41(8)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Epileptologist, Ataxia, Cerebellar Ataxia, Hearing Loss, Sensorineural, Mutation, Missense, KCNJ10, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Developmental Neuroscience, Tubulopathy, Seizures, Intellectual Disability, medicine, EAST syndrome, Missense mutation, Humans, Potassium Channels, Inwardly Rectifying, Child, Retrospective Studies, biology, business.industry, Valproic Acid, Brain, Infant, General Medicine, Syndrome, medicine.disease, Pedigree, Natural history, Carbamazepine, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Anticonvulsants, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb5685ce3f942a2e5fc81cb2c70e922Test
https://pubmed.ncbi.nlm.nih.gov/31331637Test -
9
المؤلفون: Khalid Alsaleh, Yousef Housawi, Miral Mashhour, Afnan Almousa, Masood Alqahtani, Waleed Abozeed, Abdulmalik Alsheikh, Caitlin Edwards, Natasha Buzzacott, Shareefa Al Hawwaj, Karen Carpenter, Barry Iacopetta
المصدر: Familial cancer. 17(2)
مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Cancer Research, Bioinformatics, DNA Mismatch Repair, Cohort Studies, 0302 clinical medicine, PMS2, Genetics (clinical), Early Detection of Cancer, Sanger sequencing, education.field_of_study, Incidence, High-Throughput Nucleotide Sequencing, Middle Aged, Lynch syndrome, MutS Homolog 2 Protein, 030220 oncology & carcinogenesis, symbols, Female, Microsatellite Instability, MutL Protein Homolog 1, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Population, Saudi Arabia, MLH1, 03 medical and health sciences, symbols.namesake, Internal medicine, Genetics, medicine, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Genetic Testing, education, neoplasms, business.industry, Microsatellite instability, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, MSH6, 030104 developmental biology, MSH2, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6624cc385870075d53fe09b2a03cb7baTest
https://pubmed.ncbi.nlm.nih.gov/28643016Test -
10
المؤلفون: Hani Alkhaldi, Yousef Housawi, Shareefa AlHawaj, Rabab AlAttas, Afnan Almousa, Omaiyah Al Abdulwahed
المصدر: Cancer Genetics. 209:248
مصطلحات موضوعية: Cancer Research, Terminal (electronics), Gene duplication, Genetics, Chromosomal translocation, Biology, Molecular Biology, Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f6fc7c19abd28455b9c9e6e3443c1688Test
https://doi.org/10.1016/j.cancergen.2016.05.059Test