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1
المؤلفون: Dan Doherty, Mark S. Wainwright, Hannah M. Tully
المصدر: Dev Med Child Neurol
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, MEDLINE, Article, Young Adult, Developmental Neuroscience, medicine, Humans, Child, Retrospective Studies, Proportional hazards model, business.industry, Medical record, Hazard ratio, Age Factors, Infant, Newborn, Infant, Retrospective cohort study, Mean age, medicine.disease, Hydrocephalus, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, Pediatric hydrocephalus
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2
المؤلفون: Anna Rosén, Amy Lee, Richard A. Hopper, Michael L. Cunningham, Hannah M. Tully, Tara L. Wenger
المصدر: Genetics in Medicine. 21:471-476
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Surgical approach, business.industry, 030105 genetics & heredity, medicine.disease, Craniosynostosis, 03 medical and health sciences, 030104 developmental biology, Chart review, Genotype, medicine, Pfeiffer syndrome, business, Neurocognitive, Genetics (clinical), Intracranial pressure
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3
المؤلفون: Ian G. Phelps, Ruxandra Bachmann-Gagescu, Hannah M. Tully, Ian A. Glass, Jennifer C. Dempsey, Dan Doherty
المساهمون: University of Zurich, Doherty, Dan
المصدر: American Journal of Medical Genetics Part A. 173:1237-1242
مصطلحات موضوعية: Male, 0301 basic medicine, 2716 Genetics (clinical), Pediatrics, medicine.medical_specialty, Adolescent, 10039 Institute of Medical Genetics, Population, 610 Medicine & health, Retina, Joubert syndrome, 03 medical and health sciences, 1311 Genetics, Nephronophthisis, Cerebellum, Genetics, Risk of mortality, Humans, Medicine, Abnormalities, Multiple, hepatic fibrosis, Eye Abnormalities, Renal Insufficiency, Child, education, Genetics (clinical), Cause of death, education.field_of_study, business.industry, Kidney Diseases, Cystic, medicine.disease, mortality, Rhombencephalon, 030104 developmental biology, Respiratory failure, Child, Preschool, nephronophthisis, Cohort, 570 Life sciences, biology, Female, business, Kidney disease
وصف الملف: Dempsey_et_al._Mortality_in_Joubert_syndrome_AJMG.pdf - application/pdf
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المؤلفون: Melissa Racobaldo, Amarilis Sanchez-Valle, Erin Torti, Jane Juusola, Katrina M. Dipple, Jennifer N. Dines, Gisele E. Ishak, Christine M. Disteche, Kirsty McWalter, Dan Doherty, Whitney Neufeld-Kaiser, Yajuan J. Liu, Hannah M. Tully, Taylor Sawyer
المصدر: American Journal of Medical Genetics Part A.
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Chromosomes, Human, Pair 20, Mutation, Missense, Piriform Cortex, Constriction, Pathologic, 030105 genetics & heredity, Hypopituitarism, 03 medical and health sciences, Biliary atresia, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Genetics (clinical), business.industry, Organ dysfunction, Infant, Newborn, Brain, medicine.disease, Phenotype, Hydrocephalus, 030104 developmental biology, Aqueductal stenosis, Dysplasia, Hepatocyte Nuclear Factor 3-beta, Chromosome Deletion, medicine.symptom, business, Heterotaxy
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5
المؤلفون: Hannah M. Tully
المصدر: Science Translational Medicine. 11
مصطلحات موضوعية: General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e4ef873379ff26eb2b6758ff565a54fc
https://doi.org/10.1126/scitranslmed.aaw5333 -
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المؤلفون: Hannah M. Tully
المصدر: Science Translational Medicine. 11
مصطلحات موضوعية: body regions, medicine.medical_specialty, medicine.anatomical_structure, Physical medicine and rehabilitation, business.industry, medicine, Actigraphy, General Medicine, Wrist, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::92c09ee9150dfa55b3da0fbce714e0e4
https://doi.org/10.1126/scitranslmed.aaw0530 -
7
المؤلفون: Jennifer C. Dempsey, Hannah M. Tully, Kimberly A. Aldinger, Megan E. Grout, Dan Doherty, Michele G. Mehaffey, William B. Dobyns
مصطلحات موضوعية: 0301 basic medicine, Cerebellum, Prominent forehead, Article, Midbrain, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Cerebellar Diseases, Genetics, medicine, Humans, Hypertelorism, Craniofacial, Genetics (clinical), Growth Disorders, business.industry, Anatomy, medicine.disease, Rhombencephalon, 030104 developmental biology, medicine.anatomical_structure, Aqueductal stenosis, Cerebellar vermis, medicine.symptom, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37cfed5b9b3b24ae33d268168efd17f0
https://europepmc.org/articles/PMC6540982/ -
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المؤلفون: William B. Dobyns, Hannah M. Tully, Annie Laquerrière, Dan Doherty
المصدر: Cerebrospinal Fluid Disorders ISBN: 9783319979274
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Genetic syndromes, business.industry, Ventricular dilatation, Genetic variants, Susceptibility gene, medicine.disease, Bioinformatics, nervous system diseases, Hydrocephalus, Aqueductal stenosis, medicine, Craniosynostosis syndromes, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::65352b26f955e889e624e975c04cb583
https://doi.org/10.1007/978-3-319-97928-1_6 -
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المؤلفون: Hannah M. Tully
المصدر: Science Translational Medicine. 10
مصطلحات موضوعية: 0301 basic medicine, business.industry, Multiple sclerosis, macromolecular substances, General Medicine, medicine.disease, Bioinformatics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Metabolomics, Disease severity, medicine, business, 030217 neurology & neurosurgery, Metabolic profile
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4dd2374723e3143b32242a6e34102985
https://doi.org/10.1126/scitranslmed.aav3896 -
10
المؤلفون: Hannah M. Tully
المصدر: Science Translational Medicine. 10
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, medicine.medical_specialty, Think globally, act locally, 030104 developmental biology, 0302 clinical medicine, medicine, Epilepsy surgery, General Medicine, Intensive care medicine, Psychology, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4e048255ba8e9a3b908fb5459c3b73f6
https://doi.org/10.1126/scitranslmed.aav0335