المؤلفون: Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva, Lucia Laugwitz, Samuel Groeschel, Wibke G. Janzarik, Zeynep Yentür, Katharina Becker, Ludger Schöls, Ingeborg Krägeloh-Mann, Simone Mayer

المصدر: Disease Models & Mechanisms, Vol 17, Iss 7 (2024)

مصطلحات موضوعية: organoid, pch2a, apoptosis, cerebellum, differentiation, rare disease, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/17/7/dmm050740; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/829e553d22584a2c9da550a5d7e2d965

المؤلفون: Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. Janzarik, Gerhard Kluger, Hiltrud Muhle, Rikke S. Møller, Konrad Platzer, Joana Larupa Santos, Iben Bache, Astrid Bertsche, Michaela Bonfert, Ingo Borggräfe, Philip J. Broser, Alexandre N. Datta, Trine Bjørg Hammer, Hans Hartmann, Anette Hasse-Wittmer, Marco Henneke, Hermann Kühne, Johannes R. Lemke, Oliver Maier, Eva Matzker, Andreas Merkenschlager, Joachim Opp, Steffi Patzer, Kevin Rostasy, Birgit Stark, Adam Strzelczyk, Celina von Stülpnagel, Yvonne Weber, Markus Wolff, Birgit Zirn, Georg Friedrich Hoffmann, Stefan Kölker, Steffen Syrbe

المصدر: Biomedicines, Vol 8, Iss 11, p 456 (2020)

مصطلحات موضوعية: PRRT2, BFIS, PKD, PKD/IC, hemiplegic migraine, familial infantile epilepsy, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/8/11/456; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/eb6e214b3abb422dac7278efdec1bac7

المؤلفون: Moritz Thiel, Daniel Bamborschke, Wibke G. Janzarik, Birgit Assmann, Simone Zittel, Steffi Patzer, Andrea Auhuber, Joachim Opp, Eva Matzker, Andrea Bevot, Juergen Seeger, Andreas van Baalen, Burkhard Stüve, Knut Brockmann, Sebahattin Cirak, Anne Koy

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. :jnnp-2022

مصطلحات موضوعية: Psychiatry and Mental health, Surgery, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dac38d59f018284ae4f5696af6f8f995
https://doi.org/10.1136/jnnp-2022-330261

المؤلفون: Jan H, Döring, Afshin, Saffari, Thomas, Bast, Knut, Brockmann, Laura, Ehrhardt, Walid, Fazeli, Wibke G, Janzarik, Annick, Klabunde-Cherwon, Gerhard, Kluger, Hiltrud, Muhle, Manuela, Pendziwiat, Rikke S, Møller, Konrad, Platzer, Joana Larupa, Santos, Julian, Schröter, Georg F, Hoffmann, Stefan, Kölker, Steffen, Syrbe

المصدر: Neurology. Genetics. 8(5)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::789973fc2a71de2b77e230526db52215
https://pubmed.ncbi.nlm.nih.gov/36187725

المؤلفون: Anna-Lena Klauser, Wibke G. Janzarik, Miriam Erlacher

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.

مصطلحات موضوعية: business.industry, Pontocerebellar Hypoplasia Type 2A, Medicine, business, Compound heterozygosity, Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::582c2e81fd278386d0c930fcb76079b7
https://doi.org/10.1055/s-0041-1739580

المؤلفون: David Schorling, Rupleen Kaur, J. Kirschner, Matthias Eckenweiler, A. Lee-Kirsch, Sandra Donkervoort, Wibke G. Janzarik, Carsten G. Bönnemann

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.

مصطلحات موضوعية: Genetics, business.industry, Medicine, business, Phenotype, Spectrum (topology)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6355610f7d4516da368639e832ce84ba
https://doi.org/10.1055/s-0041-1739628

المؤلفون: A. Kuhn, Samuel Groeschel, Knut Brockmann, Thorsten Langer, Wibke G. Janzarik, Ingeborg Krägeloh-Mann

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Pontocerebellar Hypoplasia Type 2A, medicine, In patient, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::52e2a03a8946a717797e6ec9fc30a527
https://doi.org/10.1055/s-0041-1739579

المؤلفون: Hans Eckart Schaefer, Wibke G. Janzarik, Miriam van Buiren, Thorsten Langer, Ingeborg Krägeloh-Mann, Patrick Gerner

المصدر: Neuropediatrics. 52(6)

مصطلحات موضوعية: medicine.medical_specialty, Spasmodic abdominal pain, business.industry, Reflux, General Medicine, Disease, medicine.disease, Gastroenterology, Hypoplasia, Abdominal Pain, Swallowing, Internal medicine, Pediatrics, Perinatology and Child Health, Failure to thrive, medicine, GERD, Gastroesophageal Reflux, Olivopontocerebellar Atrophies, Humans, Neurology (clinical), medicine.symptom, business, Disease burden

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b53b220ed4140cb0cb1ed28266739cb
https://pubmed.ncbi.nlm.nih.gov/34255333

المؤلفون: Ján Necpál, Susanne A. Schneider, Martin Krenn, Alice Kuster, Wibke G. Janzarik, Sylvia Boesch, Olga Ulmanová, Joaquim Ribeiro Ventosa, Riccardo Berutti, Steffen Berweck, Matej Skorvanek, Vladimír Haň, Matias Wagner, Miriam Ostrozovičová, Jana Švantnerová, Juliane Winkelmann, Bernhard Haslinger, Petra Havránková, Tereza Serranová, Ariane Sadr-Nabavi, Friederike Wilbert, Mohammad Shariati, Kristina Kulcsarova, Irena Rektorová, Felix Distelmaier, Konrad Oexle, Ali Shoeibi, Robert Jech, Michael Zech, Matthias Eckenweiler, Karel Bechyně, Theresa Brunet, Matthias Baumann, Alexandra Mosejova, Volker Mall, Iva Příhodová, David R. Weise, Jana Šarláková

المصدر: Mov. Disord. 36, 959-1964 (2021)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Movement disorders, 03 medical and health sciences, 0302 clinical medicine, Scoring algorithm, medicine, Humans, Genetic Testing, Medical diagnosis, Exome sequencing, Dystonia, Singleton, business.industry, Parkinson Disease, medicine.disease, Comorbidity, ddc, 030104 developmental biology, Neurology, Dystonic Disorders, Neurology (clinical), Personalized medicine, medicine.symptom, business, Diagnostic Yield, Exome Sequencing, Prediction, Rare Disease, Scoring Algorithm, 030217 neurology & neurosurgery, Algorithms

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e2e8e17774a6d73e9bbc1f2690da05
https://pubmed.ncbi.nlm.nih.gov/33949708

المؤلفون: Steffi Patzer, Konrad Platzer, Birgit Zirn, Trine Bjørg Hammer, Ingo Borggräfe, Johannes R. Lemke, Wibke G. Janzarik, Michaela Bonfert, K. Brockmann, Hermann Kühne, Kevin Rostasy, Joana Larupa Santos, Steffen Syrbe, Oliver Maier, Laura Ehrhardt, Hiltrud Muhle, Georg F. Hoffmann, Stefan Kölker, Jan Henje Döring, Philip J. Broser, Adam Strzelczyk, Afshin Saffari, Marco Henneke, Andreas Merkenschlager, Markus Wolff, Gerhard Kluger, Eva Matzker, Birgit Stark, Walid Fazeli, Rikke S. Møller, Thomas Bast, Yvonne G. Weber, Anette Hasse-Wittmer, Celina von Stülpnagel, Iben Bache, Astrid Bertsche, Hans Hartmann, Alexandre N. Datta, Joachim Opp

المصدر: Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456, pp. 1-14 . https://doi.org/10.3390/biomedicines8110456
Biomedicines
Biomedicines, Vol 8, Iss 456, p 456 (2020)
Volume 8
Issue 11
BASE-Bielefeld Academic Search Engine
Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456 . https://doi.org/10.3390/biomedicines8110456

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Movement disorders, BFIS, Medicine (miscellaneous), General Biochemistry, Genetics and Molecular Biology, Article, Hemiplegic migraine, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Phenotypic spectrum, PKD/IC, Medicine, ddc:610, familial infantile epilepsy, lcsh:QH301-705.5, Familial hemiplegic migraine, Familial infantile epilepsy, Episodic ataxia, hemiplegic migraine, business.industry, PKD, Paroxysmal dyskinesia, medicine.disease, 3. Good health, 030104 developmental biology, lcsh:Biology (General), Cohort, PRRT2, medicine.symptom, business, 030217 neurology & neurosurgery, Benign infantile epilepsy, phenotypic spectrum

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::886cd8b036616df0ed676ae6cdf586a2
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/56837