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1دورية أكاديمية
المؤلفون: Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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المؤلفون: Arthur S. Aylsworth, Kathryn M. Shively, Kati J. Buckingham, Mariam Al-Mulla, Paul M.L. Janssen, Periyasamy Radhakrishnan, Julien Fauré, Klaus Dieterich, Deborah A. Nickerson, Tawfeg Ben-Omran, Francesca Inzana, Emily M Teets, Yline Capri, Xenia Latypova, David M. Warshaw, Tamar Harel, Brit L. Martin, Ulrich A. Schatz, Katta M. Girisha, Sharon L. Amacher, Michael J. Bamshad, Reem Saadeh-Haddad, John Rendu, Hagar Mor-Shaked, Colby T. Marvin, Anju Shukla, Shalini S. Nayak, Samantha Beck Previs, Jessica X. Chong, Fatima Almusafri, Jared C. Talbot
المصدر: Am J Hum Genet
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Contracture, Myosin Light Chains, Myosin light-chain kinase, Adolescent, Myosins, Biology, Short stature, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Myosin, Genetics, medicine, Paralysis, Animals, Humans, Amino Acid Sequence, Child, Muscle, Skeletal, Letter to the Editor, Zebrafish, Genetics (clinical), Exome sequencing, 030304 developmental biology, Arthrogryposis, 0303 health sciences, Amyoplasia, Muscle weakness, Skeletal muscle, Extremities, medicine.disease, Musculoskeletal Abnormalities, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Mutation, Female, medicine.symptom, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0b23bc28fe1f7737e218e54ee40affc
https://europepmc.org/articles/PMC7413889/ -
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المؤلفون: Alya Alkaff, Wafaa Eyaid, Nada Alsahan, Rubina Khan, Niema Meriki, Yasser Alsaber, Saeed Al Tala, Mohamed Zain Seidahmed, Fatima Almusafri, Firdous Abdulwahab, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Mariam Al Mulla, Hanan E. Shamseldin, Zeneb A. Babay, Eissa Faqeih, Ahmed Kurdi, Elham Al Mardawi, Karen El-Akouri, Ola Khalifa, Ranad Shaheen, Wesam Kurdi, Nour Ewida, Sebahattin Cirak, Eman Alobeid, Alya Qari, Zuhair Rahbeeni, Matthias Pergande, Maha Alnemer, Maha Tulbah, Bahauddin Sallout, Tarfa Alshidi, Amal Alhashem, Niema Ibrahim, Mais Hashem
المصدر: Genetics in Medicine. 20:420-427
مصطلحات موضوعية: 0301 basic medicine, Prenatal diagnosis, Autopsy, Biology, Workflow, 03 medical and health sciences, symbols.namesake, Pregnancy, Cause of Death, Prenatal Diagnosis, Exome Sequencing, Humans, Genetic Predisposition to Disease, Precision Medicine, Genetic Association Studies, Genetics (clinical), Exome sequencing, Cause of death, Genetics, Fetus, Genetic Diseases, Inborn, ALPL, Phenotype, 030104 developmental biology, Molecular Diagnostic Techniques, Mendelian inheritance, symbols, Female, Genes, Lethal
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المؤلفون: Tawfeg Ben-Omran, Xenia Latypova, Jared C. Talbot, Reem Saadeh-Haddad, Julien Fauré, Mariam Al-Mulla, Jessica X. Chong, Arthur S. Aylsworth, Kati J. Buckingham, John Rendu, Fatima Almusafri, Yline Capri, Brit L. Martin, Deborah A. Nickerson, Emily M Teets, Francesca Inzana, Paul M.L. Janssen, Shalini S. Nayak, Sharon L. Amacher, Klaus Dieterich, David M. Warshaw, Katta M. Girisha, Colby T. Marvin, Periyasamy Radhakrishnan, Kathryn M. Shively, Ulrich A. Schatz, Tamar Harel, Hagar Mor-Shaked, Michael J. Bamshad, Anju Shukla, Samantha Beck Previs
المصدر: The American Journal of Human Genetics. 107:1188-1189
مصطلحات موضوعية: Genetics, Arthrogryposis, business.industry, Mutation (genetic algorithm), MEDLINE, Medicine, medicine.symptom, business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ffc18cde37683aaf474199a44241613d
https://doi.org/10.1016/j.ajhg.2020.11.006 -
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المؤلفون: Fatima Almusafri, Ayman W. El-Hattab, Tawfeg Ben-Omran, Alaa Ali, Hiba E. Elamin, Tamam E. Khalaf
المصدر: Blood Cells, Molecules, and Diseases. 65:73-77
مصطلحات موضوعية: Erythrocyte Indices, Male, 0301 basic medicine, Hemolytic anemia, Anemia, Hemolytic, Ataxia, Adolescent, Glutamate-Cysteine Ligase, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Child, Myopathy, Molecular Biology, Genetic Association Studies, Genetics, Comparative Genomic Hybridization, GCLM, Infant, Cell Biology, Hematology, Jaundice, medicine.disease, Glutathione, Glutathione synthetase, Hemolysis, Pedigree, Phenotype, 030104 developmental biology, GCLC, Child, Preschool, Mutation, Immunology, Molecular Medicine, Female, medicine.symptom, Biomarkers, 030215 immunology
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6FV 241. Mutations in NFE2L2 Lead to a Novel Treatable Neurological Disorder with Leukoencephalopathy
المؤلفون: Peter Huppke, Fatima Almusafri, Martina Krusen, Susann Weissbach, Amber Begtrup, Janine Altmüller, Holger Thiele, Joseph A. Church, Annika Wolf, Peter Nürnberg, Francisca Millan, Nikolaus Kühn-Velten, Steffi Dreha-Kulaczewski, Jutta Gärtner, Rhonda E. Schnur, Michael Müller, Brenda Huppke
المصدر: Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
مصطلحات موضوعية: Leukoencephalopathy, Pediatrics, medicine.medical_specialty, business.industry, medicine, Neurological disorder, medicine.disease, business, NFE2L2
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d1c6d7f938114d08932d1de84e9dad31
https://doi.org/10.1055/s-0038-1675914 -
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المؤلفون: Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
المصدر: Nature Communications
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)مصطلحات موضوعية: Male, Adolescent, NF-E2-Related Factor 2, Science, Developmental Disabilities, education, Mutation, Missense, digestive system, environment and public health, Article, Humans, lcsh:Science, Child, Binding Sites, Kelch-Like ECH-Associated Protein 1, Learning Disabilities, Immunologic Deficiency Syndromes, Brain, Infant, Syndrome, respiratory system, Magnetic Resonance Imaging, humanities, Failure to Thrive, Gene Expression Regulation, Mutation, lcsh:Q, Female