المؤلفون: Nesreen K. Al-Jezawi, Aisha M. Al-Shamsi, Jehan Suleiman, Salma Ben-Salem, Anne John, Ranjit Vijayan, Bassam R. Ali, Lihadh Al-Gazali

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-11 (2018)

مصطلحات موضوعية: Congenital hydrocephalus, Multiple PDZ, L1CAM, Compound heterozygous variants, Autosomal recessive, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0540-x; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/9cd1a86a2ef24357a99cc435d2c1a6d7

المؤلفون: Hanadi A. Abdelrahman, Nadia Akawi, Aisha M. Al‐Shamsi, Amanat Ali, Fatma Al‐Jasmi, Anne John, Jozef Hertecant, Lihadh Al‐Gazali, Bassam R. Ali

المصدر: Clinical Genetics. 101:403-410

مصطلحات موضوعية: Heart Defects, Congenital, Cholestasis, Phenotype, Homozygote, Genetics, Animals, Humans, Jaundice, Matrix Metalloproteinase 15, Genetics (clinical), Failure to Thrive

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10b04979ec12ffeb121cf718178681d
https://doi.org/10.1111/cge.14107

المؤلفون: Brahim Tabarki, Malak Alghamdi, Fuad Al Mutairi, Arndt Rolfs, Zuhair N. Al-Hassnan, Najim Ameziane, Aida M. Bertoli-Avella, Abdulrahman Alswaid, Anika Leubauer, Huma Arshad Cheema, Fowzan S. Alkuraya, Suliman Khan, Mohammed AlBalwi, Lihadh Al-Gazali, Oana Moldovan, Wafaa Eyaid, Ahmed Alfares, Vasiliki Karageorgou, Nouriya Al-Sannaa, Alize Urzi, Patrícia Dias, Majid Alfadhel, Amal Alhashem, Nadia Al Hashmi, Krishna Kumar Kandaswamy, Kornelia Tripolszki, Peter Bauer, Fatemeh Hadipour, Irina Hüning, Ruslan Al-Ali, Maha S. Zaki, Maria Eugenia Rocha, Natalia Ordonez-Herrera, Zahra Hadipour, Aisha M. Al-Shamsi, Christian Beetz, Ronja Hotakainen

المصدر: Genetics in Medicine

مصطلحات موضوعية: Candidate gene, Base Sequence, medicine.diagnostic_test, Nerve Tissue Proteins, Disease, Computational biology, Biology, medicine.disease, Article, DNA sequencing, Phenotype, Intellectual Disability, Exome Sequencing, Intellectual disability, Human Phenotype Ontology, medicine, Humans, Exome, Gene, Genetics (clinical), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d4b62d3053eb8cc2a55af978d72b485
https://doi.org/10.1038/s41436-021-01159-0

المؤلفون: Richard S. Smith, Lina Basel-Salmon, Friedhelm Hildebrandt, Gilad D. Evrony, Aisha M. Al-Shamsi, Jiin Ying Lim, Rachel Straussberg, Indra Ganesan, Diane D. Shao, Christian Beetz, Najim Ameziane, Min Dong, Christopher A. Walsh, Guntram Borck, Saumya Shekhar Jamuar, Lihadh Al-Gazali, Peter Bauer, R. Sean Hill, Edward Yang, Amar J. Majmundar, Iris Hovel, Amal Al Tenaiji, Amjad Khan, Achiya Z. Amir, Hind Ahmed, Muna Al-Saffar, Thorsten M. Schlaeger, Lariza M. Rento, Jennifer E. Neil, A. James Barkovich, Wafaa Eyaid, Songhai Tian, Shirlee Shril

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Developmental Disabilities, Biology, Brief Communication, Genome, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Arachnodactyly, 0302 clinical medicine, Seizures, Intellectual Disability, medicine, Humans, Global developmental delay, Child, Frameshift Mutation, Exome, Genetics (clinical), Genetics, Sanger sequencing, Homozygote, Haplotype, Membrane Proteins, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, symbols, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0412cacce3d49220be4b2d68dd6a0187
https://doi.org/10.1038/s41436-021-01097-x

المؤلفون: Hanadi A. Abdelrahman, Nadia Akawi, Aisha M. Al-Shamsi, Lihadh Al-Gazali, Bassam R. Ali

المصدر: Journal of Pediatric Genetics.

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7d006999e1490d8bf05948401e1a4cb0
https://doi.org/10.1055/s-0042-1748018

المؤلفون: H E S, Amiri, D, Brain, O, Sharaf, P, Withnell, M, McGrath, M, Alloghani, M, Al Awadhi, S, Al Dhafri, O, Al Hamadi, H, Al Matroushi, Z, Al Shamsi, O, Al Shehhi, M, Chaffin, J, Deighan, C, Edwards, N, Ferrington, B, Harter, G, Holsclaw, M, Kelly, D, Kubitschek, B, Landin, R, Lillis, M, Packard, J, Parker, E, Pilinski, B, Pramman, H, Reed, S, Ryan, C, Sanders, M, Smith, C, Tomso, R, Wrigley, H, Al Mazmi, N, Al Mheiri, M, Al Shamsi, E, Al Tunaiji, K, Badri, P, Christensen, S, England, M, Fillingim, F, Forget, S, Jain, B M, Jakosky, A, Jones, F, Lootah, J G, Luhmann, M, Osterloo, M, Wolff, M, Yousuf

المصدر: Space Science Reviews. 218

مصطلحات موضوعية: Space and Planetary Science, Astronomy and Astrophysics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f243cc17c6a8ef3c7a2e226d9fa502e
https://doi.org/10.1007/s11214-021-00868-x

المؤلفون: Najim Ameziane, Dan Diego-Alvarez, Wafaa Eyaid, Nouriya Al-Sannaa, Catarina Pereira, Ahmed Alfares, Aida M. Bertoli-Avella, Jozef Hertecant, Pilar Guatibonza, Abdulrahman Alswaid, Susan Zielske, Arndt Rolfs, María Calvo, Marius-Ionuț Iurașcu, Aisha M. Al-Shamsi, Yasemin Alanay, Florian Vogel, Christian Beetz, Peter Bauer, Krishna Kumar Kandaswamy, Monica Segura-Castel, Amal Alhashem, Kapil Kampe, Maria Eugenia Rocha, Willie Reardon, Majid Alfadhel, Dimitar Ugrinovski, Michal Zawada, Gitte Warnack, Mohammed AlBalwi, Martin Werber, Claudia Cozma, Omid Paknia, Fuad Al Mutairi, Natalia Herrera-Ordonez

المساهمون: Acibadem University Dspace

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Oncology, 0303 health sciences, medicine.medical_specialty, Diagnostic methods, business.industry, 030305 genetics & heredity, Genomics, Article, DNA sequencing, 03 medical and health sciences, Unknown Significance, RNA analysis, Internal medicine, Genetics research, Cohort, Genetics, medicine, Biomarker (medicine), Medical diagnosis, business, Genetics (clinical), Exome sequencing, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cf3a013010721b2cab723dbdc82cadf
https://doi.org/10.1038/s41431-020-00713-9

المؤلفون: Afif Ben-Mahmoud, Lihadh Al-Gazali, Aisha M. Al-Shamsi, Bassam R. Ali

المصدر: Journal of Molecular Neuroscience. 70:320-327

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Developmental Disabilities, Mutation, Missense, Disease, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Borderline intellectual functioning, Intellectual Disability, Intellectual disability, medicine, Humans, Missense mutation, Child, Gene, Exome sequencing, Genetics, General Medicine, Disease gene identification, medicine.disease, Protein Transport, HEK293 Cells, 030104 developmental biology, 030217 neurology & neurosurgery, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a44406bf2f2090b8de244f0cb33fb11e
https://doi.org/10.1007/s12031-019-01415-8

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Nahid Al Dhahouri, Claus Dieter Langhans, Aisha M. Al-Shamsi, Osama Y. Al-Dirbashi, Jürgen G. Okun, Fatma Al-Jasmi, Khalid Al-Thihli, Majid Alfadhel, Georg F. Hoffmann, Jozef Hertecant, Zalikha Al Hammadi

المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, animal diseases, Methylmalonic acidemia, lcsh:Medicine, Predictive markers, Biochemistry, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Citrate synthase, Humans, Citrates, cardiovascular diseases, Propionic acidemia, lcsh:Science, Multidisciplinary, biology, lcsh:R, Metabolism, medicine.disease, Adenosylcobalamin, Pyruvate carboxylase, nervous system diseases, Citric acid cycle, 030104 developmental biology, chemistry, Case-Control Studies, biology.protein, cardiovascular system, Biological Assay, lcsh:Q, Dried Blood Spot Testing, Propionates, Citric acid, 030217 neurology & neurosurgery, Biomarkers, Metabolism, Inborn Errors, medicine.drug, Methylmalonic Acid, circulatory and respiratory physiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be040d0ae7ada9e9ab3b346a306c5b41
http://link.springer.com/article/10.1038/s41598-019-48885-9