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Journal Articles and Books
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Prithviraj, Prithviraj R; Banerjee, Bidisha; Acharya, Ullas V; Hafis, Muhammed; Sasidharan, Sruthi K:
Clinico-radiologic spectrum and outcome of paediatric acquired demyelinating disorders (ADS) of central nervous system: a retrospective Indian tertiary care hospital cohort.
Neuropediatrics; Accepted Manuscripts
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PDF (2543 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)
Kutlutürk Yıkılmaz, Seval; Tanrıverdi, Müberra; Öktem, Sedat:
Reliability and Validity of the Turkish Translation of the PedsQL™ 3.0 Neuromuscular Module for 2-to 4-Year-Olds in Spinal Muscular Atrophy
Neuropediatrics; eFirst
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PDF (3253 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
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
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; eFirst
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PDF (686 kb)
Almomen, Momen; Burgon, Patrick G.:
Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?
Neuropediatrics; eFirst
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PDF (808 kb)
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)
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)
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; eFirst
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PDF (768 kb)
Supplementary Material
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)
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; eFirst
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PDF (1916 kb)
Öz Yıldız, Sibel; Yalnızoğlu, Dilek; Şimsek Kiper, Pelin Özlem; Göçmen, Rahşan; Soğukpınar, Merve; Utine, Gülen Eda; Haliloğlu, Göknur:
Delineation of
ADPRHL2
Variants: Report of Two New Patients with Review of the Literature
Neuropediatrics; eFirst
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PDF (2641 kb)
Supplementary Material
Öz Yıldız, Sibel; Yalnızoğlu, Dilek; Şimsek Kiper, Pelin Özlem; Göçmen, Rahşan; Soğukpınar, Merve; Utine, Gülen Eda; Haliloğlu, Göknur:
Delineation of
ADPRHL2
Variants: Report of Two New Patients with Review of the Literature
Neuropediatrics; Issue NPED Women, 2024
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PDF (2641 kb)
Supplementary Material
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; eFirst
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PDF (3269 kb)
Zaddach, Malin; Wagner, Johanna; Kunz, Mathias; Paolini, Marco; Borggraefe, Ingo; Heinen, Florian:
Colloid Cyst Causing Massive Headache Attacks
Neuropediatrics; eFirst
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PDF (217 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
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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)
Pais-Cunha, Inês; Almeida, Ana I.; Curval, Ana R.; Fonseca, Jacinta; Melo, Cláudia; Sampaio, Mafalda; Sousa, Raquel:
Cerebral Venous Thrombosis in Pediatric Age: Risk Factors and Prognosis
Neuropediatrics; eFirst
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PDF (1182 kb)
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