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Journal Articles and Books
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Kempeneers, Marinus A; Buis, Dennis; Feller, Ricardo E.; Roosendaal, Stefan; Slot, K. Mariam; Wolf, Nicole; Vandertop, W. Peter:
Torticollis with Atlantoaxial Rotatory Subluxation in Children: A clinical review
Neuropediatrics; Accepted Manuscripts
Full Text
PDF (1352 kb)
Chadda, Aditya; Kumar, Pawan; Bhatia, Anmol; Vyas, Sameer; Sankhyan, Naveen:
Redness in a Squinted Eye: Is that a Clue?
Neuropediatrics; eFirst
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PDF (1537 kb)
Ohshiro, Ikko; Okanishi, Tohru; Ohta, Ryo; Ohta, Kento; Arai, Yuto; Kanai, Sotaro; Fujimoto, Ayataka; Maegaki, Yoshihiro:
Three Patients of the Early Onset Epileptic Spasms without Hypsarrhythmia
Neuropediatrics; eFirst
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PDF (5800 kb)
Supplementary Material
Prithviraj, Ramakrishna; Banerjee, Bidisha; Acharya, Ullas V.; Hafis, Muhammed; Sashidharan, Sruthi:
Clinico-radiologic Spectrum and Outcome of Pediatric Acquired Demyelinating Disorders of Central Nervous System: A Retrospective Indian Tertiary Care Hospital Cohort
Neuropediatrics; eFirst
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PDF (761 kb)
Nenadic-Baranasic, Natasa; Nemir, Jakob; Borovecki, Fran; Njiric, Niko; Lehman, Ivan:
Deep Brain Stimulation in a 10-Year-Old Child with Pantothenate Kinase-associated Neurodegeneration
Neuropediatrics; eFirst
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PDF (43 kb)
Asakura, Mari; Ogasawara, Masashi; Igarashi, Mizuho; Takeshima, Keigo; Fukao, Eri; Ikuta, Yoji:
Pediatric Tolosa–Hunt Syndrome with Ptosis and Transient Periorbital Headache
Neuropediatrics; eFirst
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PDF (643 kb)
Jacob, Maureen; Brugger, Melanie; Andres, Stephanie; Wagner, Matias; Graf, Elisabeth; Berutti, Riccardo; Tilch, Erik; Pavlov, Martin; Mayerhanser, Katharina; Hoefele, Julia; Meitinger, Thomas; Winkelmann, Juliane; Brunet, Theresa:
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in
TBCK
in a Case from 30 Years Ago
Neuropediatrics; eFirst
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PDF (2617 kb)
Supplementary Material
Kalampokini, Stefania; Xiromerisiou, Georgia; Bargiotas, Panagiotis; Anastasiadou, Violetta Christophidou; Costeas, Paul; Hadjigeorgiou, Georgios M.:
PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases
Neuropediatrics; eFirst
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PDF (1059 kb)
Gerstner, Thorsten; Henning, Oliver; Løhaugen, Gro; Skranes, Jon:
Reduced Interhemispheric Coherence and Cognition in Children with Fetal Alcohol Spectrum Disorder (FASD)—A Quantitative EEG Study
Neuropediatrics; eFirst
HTML
PDF (187 kb)
Franquelim, Catarina; Romana, Andreia; Rachão, Augusto; Martins, Joana Sousa; Monteiro, José Paulo; Carvalho, João:
Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with
PIGA
Gene Mutation
Neuropediatrics; eFirst
Full Text
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PDF (687 kb)
Fearns, Nicholas; Wagner, Matias; Borggräfe, Ingo; Kunz, Mathias; Rémi, Jan; Vollmar, Christian:
Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic
COL4A1
Mutation
Neuropediatrics; eFirst
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PDF (2435 kb)
Kim, Jon Soo; Woo, Hyewon; Lee, Jae Hee; Kim, Won Seop:
Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom
Neuropediatrics; eFirst
HTML
PDF (186 kb)
Zaddach, Malin; Wagner, Johanna; Kunz, Mathias; Paolini, Marco; Borggraefe, Ingo; Heinen, Florian:
Colloid Cyst Causing Massive Headache Attacks
Neuropediatrics; Issue 03, 2024
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PDF (223 kb)
Freitas, Leonardo Furtado; Miranda, Eduardo Carvalho; Amaro, Aline Pimentel; Narvaez, Eduardo de Oliveira; Duarte, Márcio Luís:
Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome
Neuropediatrics; Issue 03, 2024
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PDF (1474 kb)
Gebert, Johannes; Brunet, Theresa; Wagner, Matias; Rath, Jakob; Aull-Watschinger, Susanne; Pataraia, Ekaterina; Krenn, Martin:
A Homozygous
PTRHD1
Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism
Neuropediatrics; Issue 03, 2024
Full Text
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PDF (1250 kb)
Menke, C.; Wieland, I.; Bueltmann, E.; Illsinger, S.; Hartmann, H.:
Anterior Spinal Artery Syndrome Due to Fibrocartilaginous Embolism—Case Report and Treatment Options
Neuropediatrics; Issue 03, 2024
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PDF (415 kb)
Kahl, Niklas; Lüsebrink, Natalia; Schubert-Bast, Susanne; Freiman, Thomas M.; Kieslich, Matthias:
Bilateral Foramina Parietalia Permagna – A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review
Neuropediatrics; Issue 03, 2024
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PDF (449 kb)
Supplementary Material
Almomen, Momen; Amer, Fawzia; Alfaraj, Fatima; Burgon, Patrick G.; Bashir, Shahid; Alghamdi, Fouad:
STAC3
-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients
Neuropediatrics; Issue 03, 2024
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PDF (754 kb)
Pasca, Ludovica; Politano, Davide; Cavallini, Anna; Panzeri, Elena; Vigone, Maria Cristina; Baldoli, Cristina; Abbate, Marco; Kullmann, Gaia; Marelli, Susan; Pozzobon, Gabriella; Vincenzi, Gaia; Nacinovich, Renata; Bassi, Maria Teresa; Romaniello, Romina:
A Novel De novo Heterozygous Mutation in the
SON
Gene Associated with Septo-optic Dysplasia: A New Phenotype
Neuropediatrics; Issue 03, 2024
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PDF (408 kb)
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Yıldırım, Miraç; Yarenci, Gülçin Bilicen; Genç, Mustafa Berk; Uçar, Çiğdem İlter; Bayav, Secahattin; Tekin, Merve Nur; Bektaş, Ömer; Teber, Serap:
VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review
Neuropediatrics; Issue 03, 2024
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PDF (686 kb)
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