المؤلفون: Laurie S. Sadler, Nadav I. Weinstock

المصدر: American Journal of Medical Genetics Part A. 188:364-368

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Fulminant, RASopathy, medicine.disease, Short stature, Hydrocephalus, In utero, Genetics, medicine, Noonan syndrome, medicine.symptom, business, Neurologic Findings, Genetics (clinical), Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cf5daa827044a5d33a4fbab280006cccTest
https://doi.org/10.1002/ajmg.a.62523Test

المؤلفون: Yi Luo, Kurt-Wolfram Sühs, Makbule Senel, Hayrettin Tumani, Thomas Skripuletz, Nora Möhn, Frank Peßler, Martin Stangel

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 12, Pp 2228-2234 (2021)

مصطلحات موضوعية: Adult, Male, Multiple Sclerosis, Kynurenine pathway, Central nervous system, Neurosciences. Biological psychiatry. Neuropsychiatry, Inflammation, Young Adult, chemistry.chemical_compound, Cerebrospinal fluid, medicine, Humans, Clinical significance, RC346-429, Receptor, Research Articles, Kynurenine, Aged, Encephalitis, Varicella Zoster, Aged, 80 and over, Anti-N-Methyl-D-Aspartate Receptor Encephalitis, Pseudotumor Cerebri, business.industry, General Neuroscience, Tryptophan, Middle Aged, medicine.disease, Meningitis, Viral, Hydrocephalus, Normal Pressure, medicine.anatomical_structure, chemistry, Immunology, Female, Neurology. Diseases of the nervous system, Encephalitis, Herpes Simplex, Neurology (clinical), medicine.symptom, business, Biomarkers, Encephalitis, RC321-571, Research Article, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe720b29428dd4b03bc4c8e14aacb012Test
https://doi.org/10.1002/acn3.51383Test

المؤلفون: Ugur Sener, Kevin Elmore, Marc K. Rosenblum, Joanne Porter, Keerthana Jayaseelan, Ashfaq A. Marghoob, Sofia Haque, Yasmin Khakoo

المصدر: Pediatr Dermatol

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Melanoma, Leptomeninges, Dermatology, medicine.disease, Article, Hydrocephalus, Meningeal carcinomatosis, Pediatrics, Perinatology and Child Health, Cerebrospinal fluid diversion, Ascites, medicine, medicine.symptom, business, Complication, Intracranial pressure

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6998a3c33cb1764ba44faf8585a8e8ffTest
https://doi.org/10.1111/pde.14789Test

المؤلفون: Fan Hu, Zhangyang Wang, Yiying Zhang, Xin Wang, Jing Ding

المصدر: CNS Neuroscience & Therapeutics

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Urinary incontinence, Review Article, cerebrospinal fluid dynamics, White matter, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Physiology (medical), Internal medicine, medicine, Animals, Humans, Pharmacology (medical), Review Articles, pathophysiology, Cognitive deficit, Retrospective Studies, Pharmacology, business.industry, pathogenesis, medicine.disease, Hydrocephalus, Normal Pressure, Hydrocephalus, Psychiatry and Mental health, 030104 developmental biology, medicine.anatomical_structure, Blood-Brain Barrier, Cardiology, Glymphatic system, medicine.symptom, business, Glymphatic System, idiopathic normal pressure hydrocephalus, 030217 neurology & neurosurgery, Ventriculomegaly

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd374f93900d38be573d5255bb2b8e06Test
https://doi.org/10.1111/cns.13526Test

المؤلفون: Joseph Porrmann, Jens Schallner, Deepika D'Cunha Burkardt, Maria Lisa Dentici, Pedro A. Sanchez-Lara, Ghayda M. Mirzaa, John M. Graham, William B. Dobyns, Nataliya Di Donato, Nicole Horsley, Benson Lee, Filomena Pirozzi, Claudia Cesario

المصدر: Am J Med Genet A

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, endocrine system, Microcephaly, Adolescent, 030105 genetics & heredity, Biology, Short stature, Article, Frameshift mutation, 03 medical and health sciences, Exon, Cyclin D2, Genetics, medicine, Humans, Megalencephaly, Child, Genetics (clinical), Brain, Infant, Human brain, medicine.disease, Phenotype, Polydactyly, 030104 developmental biology, medicine.anatomical_structure, Polymicrogyria, Mutation, Female, medicine.symptom, Hydrocephalus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f13cae16d923801ca49cdfe2b5db66fTest
https://doi.org/10.1002/ajmg.a.62362Test

المؤلفون: Abdurrahman Altindag, Gulcin Elboga, Ali Artas, Aslihan Gumuslu Agcabay, Şengül Kocamer Şahin, Bahadir Demir

المصدر: Psychogeriatrics. 21:678-680

مصطلحات موضوعية: business.industry, Amnesia, medicine.disease, Shunt surgery, Hydrocephalus, Psychiatry and Mental health, Normal pressure hydrocephalus, Anesthesia, Medicine, Geriatrics and Gerontology, medicine.symptom, business, Gerontology, Depression (differential diagnoses)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bfa14c3d4957788972af8d81e5458a86Test
https://doi.org/10.1111/psyg.12694Test

المؤلفون: Hailey Pinz, Teresa Andreone, Sara E Starnes, Stephen R. Braddock, Miguel A. Guzman, Manasa Karumuri, Timothy D. Gauntner, Sherri Besmer

المصدر: Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 3, Pp 1518-1523 (2021)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, L1, lcsh:Medicine, Case Report, Case Reports, Disease, 030204 cardiovascular system & hematology, digestive system, Adducted thumb, Congenital hydrocephalus, 03 medical and health sciences, 0302 clinical medicine, Medicine, genetics, neurosurgery, Spasticity, L1 syndrome, lcsh:R5-920, paediatrics and adolescent medicine, business.industry, lcsh:R, General Medicine, L1CAM gene, digestive system diseases, 030220 oncology & carcinogenesis, Neurosurgery, medicine.symptom, lcsh:Medicine (General), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91766c95c7557ef950be44c5ea9bc053Test
https://doi.org/10.1002/ccr3.3816Test

المؤلفون: Abdul Halim Kassim, Erina Sasaki, Arndt Rolfs, Ronja Hotakainen, Peter Bauer, William Reardon, Kornelia Tripolszki, Catarina Pereira, Aida M. Bertoli-Avella

المصدر: Clinical Genetics. 99:303-308

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Candidate gene, Mutation, Missense, Disease, 030105 genetics & heredity, Asymptomatic, 03 medical and health sciences, Genes, X-Linked, Endopeptidases, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Genetic Association Studies, Genetics (clinical), Family Health, Whole Genome Sequencing, business.industry, Infant, Newborn, Syndrome, medicine.disease, Hypotonia, Pedigree, Hydrocephalus, 030104 developmental biology, Neurodevelopmental Disorders, Genes, Lethal, medicine.symptom, business, Ventriculomegaly

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5296dc0f3f2dc1af55167e71a3ca2a8cTest
https://doi.org/10.1111/cge.13873Test

المؤلفون: Marcus J. Drake, Evangelista Martinelli, Bilal Farhan, Sabine Klepsch, John P. Lavelle, Ricardo Pereira e Silva, Camilla Blain, Petros Georgopoulos, Jeremy Nettleton, Holly A. Roy, Catherine Dalton, Katarina Ivana Tudor, Adrian Wagg, Ailton Fernandes, Jalesh N. Panicker, Christina Anastasia Rapidi, Ivan Radoja

المصدر: Roy, H A, Nettleton, J, Blain, C, Dalton, C, Farhan, B, Fernandes, A, Georgopoulos, P, Klepsch, S, Lavelle, J, Martinelli, E, Panicker, J N, Radoja, I, Rapidi, C A, Pereira e Silva, R, Tudor, K, Wagg, A S & Drake, M J 2020, ' Assessment of patients with lower urinary tract symptoms where an undiagnosed neurological disease is suspected : A report from an International Continence Society consensus working group ', Neurourology and Urodynamics, vol. 39, no. 8, pp. 2535-2543 . https://doi.org/10.1002/nau.24469Test
Roy, H A, Nettleton, J, Blain, C, Dalton, C, Farhan, B, Fernandes, A, Georgopoulos, P, Klepsch, S, Lavelle, J, Martinelli, E, Panicker, J N, Radoja, I, Rapidi, C-A, Silva, R P E, Tudor, K, Wagg, A S & Drake, M J 2020, ' Assessment of patients with lower urinary tract symptoms where an undiagnosed neurological disease is suspected : report from an International Continence Society consensus working group ', Neurourology and Urodynamics . https://doi.org/10.1002/nau.24469Test

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Consensus, Neurology, Spinal stenosis, Urology, 030232 urology & nephrology, 03 medical and health sciences, 0302 clinical medicine, Lower Urinary Tract Symptoms, Normal pressure hydrocephalus, Enuresis, Lower urinary tract symptoms, incontinence, medicine, Humans, lower urinary tract symptoms, Neuro-urology, 030219 obstetrics & reproductive medicine, business.industry, neurology, Multiple sclerosis, Age Factors, Diagnostic Techniques, Urological, neurourology, medicine.disease, Occult, overactive bladder, Overactive bladder, Female, Neurology (clinical), Nervous System Diseases, medicine.symptom, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22c1104e29073d1499e4db83a29cc26Test
https://doi.org/10.1002/nau.24469Test

المؤلفون: Frédéric Bilan, Antonio Pizzuti, Madeleine Joubert, Claire Beneteau, Brigitte Gilbert-Dussardier, Laura Bernardini, Matthieu Egloff, Tanguy Niclass, Gwenaël Le Guyader, Maria Grazia Giuffrida

المصدر: American Journal of Medical Genetics Part A. 182:2133-2138

مصطلحات موضوعية: 0301 basic medicine, business.industry, Horseshoe kidney, Anatomy, 030105 genetics & heredity, Microdeletion syndrome, medicine.disease, Hydrocephalus, 03 medical and health sciences, 030104 developmental biology, Pectus excavatum, Genetics, Medicine, Syndactyly, Hypertelorism, medicine.symptom, business, Genetics (clinical), Ventriculomegaly, Low-set ears

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f30889c6770c04430f8c12c635fc5cb9Test
https://doi.org/10.1002/ajmg.a.61734Test