نتائج البحث - "Seham Alameer"

المساهمون: University Hospital of Heidelberg, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz Zentrum Muenchen, King Khaled National Guard Hospital, Partenaires INRAE, Department of Pediatrics, School of Medicine, University of California [Davis] (UC Davis), University of California-University of California, CHU Toulouse [Toulouse], Cukurova University, University of Southern California (USC), Temple Street Children's University Hospital, Gazi University, Hannover Medical School [Hannover] (MHH), University Hospital of Würzburg, Heidelberg University, Hospital Bambino Gesù, University Children's Hospital, Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), King's College Hospital (KCH), Dr Von Hauner Children's Hospital, Institute of Human Genetics, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Medizinische Universität Wien = Medical University of Vienna, Physiopathologie des Adaptations Nutritionnelles (PhAN), Université de Nantes (UN)-Institut National de la Recherche Agronomique (INRA), Medical Faculty Carl Gustav Carus, Technische Universität Dresden = Dresden University of Technology (TU Dresden), University of Minnesota System, Paracelsus Medical University, University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Hôpital Jeanne de Flandre [Lille], Vall d'Hebron University Hospital [Barcelona], Çukurova Üniversitesi

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, ⟨10.1038/s41436-019-0698-4⟩
Genet. Med. 22, 610-621 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, NBAS, RALF, SOPH syndrome, acute liver failure, infantile liver failure syndrome type 2, Nbas, Infantile Liver Failure Syndrome Type 2, Soph Syndrome, Acute Liver Failure, Ralf, Medizin, Mutation, Missense, Disease, 030105 genetics & heredity, Short stature, 03 medical and health sciences, Atrophy, Medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Child, Muscle, Skeletal, Genotype-Phenotype Correlations, Genetics (clinical), Alleles, Genetics, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Syndrome type, business.industry, Genetic Diseases, Inborn, Brain, Infant, medicine.disease, Phenotype, 3. Good health, Patient management, Liver Transplantation, Neoplasm Proteins, 030104 developmental biology, Liver, Child, Preschool, Female, medicine.symptom, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5a66f545c596a4d2970184525257c61Test
https://avesis.gazi.edu.tr/publication/details/438f8e81-8c68-4672-8eba-f441bd974ee0/oaiTest

10

Expanding the clinical and genetic spectra of NKX6-2 -related disorder

المؤلفون: Hanadi A. Abdelrahman, Arndt Rolfs, Fahad Al-Hakami, L.I. Al-Gazali, Nouriya Al-Sannaa, Aida M. Bertoli-Avella, Peter Bauer, Halenur Yavuz, A.A. Elmonairy, A.M. Al Shamsi, Aiman Shawli, Seham Alameer, Krishna Kumar Kandaswamy, Oliver Brandau, Majid Alfadhel, Khalid Al-Thihli, Caterina Baldi

المصدر: Clinical Genetics. 93:1087-1092

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Nystagmus, 030105 genetics & heredity, White matter, Genetic Heterogeneity, 03 medical and health sciences, 0302 clinical medicine, Seizures, Exome Sequencing, Genetics, Humans, Medicine, Exome, Genetic Predisposition to Disease, Child, Genetic Association Studies, Genetics (clinical), Homeodomain Proteins, Whole Genome Sequencing, Genetic heterogeneity, business.industry, Homozygote, Infant, White Matter, Phenotype, Hypotonia, Hereditary Central Nervous System Demyelinating Diseases, medicine.anatomical_structure, Child, Preschool, Mutation, Female, Related disorder, medicine.symptom, business, Psychomotor delay, Developmental regression, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c65963b90f6258bee2378d623a201e7Test
https://doi.org/10.1111/cge.13221Test

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