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Journal Articles and Books
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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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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)
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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)
Gao, Xin; Xin, Guoyan; Tu, Ya; Liang, Xiaoping; Yang, Huimin; Meng, Hong; Wang, Yumin:
TARS2 Variants Cause Combination Oxidative Phosphorylation Deficiency-21: A Case Report and Literature Review
Neuropediatrics; Issue 03, 2024
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PDF (1436 kb)
Almomen, Momen; Burgon, Patrick G.:
Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?
Neuropediatrics; Issue 03, 2024
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PDF (809 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; Issue 03, 2024
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PDF (1186 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; Issue 03, 2024
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PDF (1176 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; Issue 03, 2024
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PDF (2600 kb)
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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 (2600 kb)
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Xie, Vivien X.; Harrar, Dana; Murnick, Jonathan; Bharucha-Goebel, Diana; Sen, Kuntal:
Starfield Pattern on Brain MRI in a Patient with Duchenne Muscular Dystrophy
Neuropediatrics; Issue NPED Women, 2023
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PDF (230 kb)
Xie, Vivien X.; Harrar, Dana; Murnick, Jonathan; Bharucha-Goebel, Diana; Sen, Kuntal:
Starfield Pattern on Brain MRI in a Patient with Duchenne Muscular Dystrophy
Neuropediatrics; Issue 02, 2024
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PDF (230 kb)
Manjunathan, Sujatha; Gunasekaran, Pradeep Kumar; Laxmi, Veena; Kumar, Ashna; Saini, Lokesh:
Cogan's Lid Twitch Sign in a Child with Congenital Myasthenia
Neuropediatrics; Issue 02, 2024
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PDF (83 kb)
Xie, Vivien X.; Harrar, Dana; Murnick, Jonathan; Bharucha-Goebel, Diana; Sen, Kuntal:
Starfield Pattern on Brain MRI in a Patient with Duchenne Muscular Dystrophy
Neuropediatrics; Issue NPED Women, 2024
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PDF (230 kb)
Borggraefe, Ingo:
Thanks to Reviewers and Authors
Neuropediatrics; Issue 02, 2024
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PDF (38 kb)
Alabssi, Haila; Almulhim, Nouf F.; Al-Omari, Mohammed; Safar, Ayat H.:
Anti-NMDA Autoimmune Encephalitis Post-COVID-19 Vaccination in a Pediatric Patient: A Case Report
Neuropediatrics; Issue 02, 2024
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PDF (452 kb)
Sun, Rui-di; Jiang, Jun; Deng, Xiao-long:
Factors Associated with Respiratory Insufficiency in Children with Guillain–Barré Syndrome
Neuropediatrics; Issue 02, 2024
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PDF (201 kb)
Ferrera, Giulia; Izzo, Rossella; Ghezzi, Daniele; Nanetti, Lorenzo; Lamantea, Eleonora; Ardissone, Anna:
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood
Neuropediatrics; Issue 02, 2024
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PDF (689 kb)
Supplementary Material
Saracino, Annalisa; Totaro, Martina; Politano, Davide; DE Giorgis, Valentina; Gana, Simone; Papalia, Grazia; Pichiecchio, Anna; Plumari, Massimo; Rognone, Elisa; Varesio, Costanza; Orcesi, Simona:
PGAP2
-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives
Neuropediatrics; Issue 02, 2024
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PDF (2604 kb)
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