المؤلفون: Carolin Escherich, Benedikt Bötticher, Stefani Harmsen, Marc Hömberg, Jörg Schaper, Myriam Ricarda Lorenz, Klaus Schwarz, Arndt Borkhardt, Prasad Thomas Oommen

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: deficiency of adenosine deaminase type 2, ADA2 enzyme activity, siblings at risk, phenotype-genotype diversity, diagnostic algorithm, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.885893/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/d6152e7c12ea4cb889ae4bf8f7ec50c9

المؤلفون: Alina Filatova, Linda K. Rey, Marion B. Lechler, Jörg Schaper, Maja Hempel, Renata Posmyk, Krzysztof Szczaluba, Gijs W. E. Santen, Dagmar Wieczorek, Ulrike A. Nuber

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/66e16b61abb241279ef0843df3598a01

المؤلفون: Karoline van de Loo, Stefan Balzer, Colin R. MacKenzie, Thomas M. Boemers, Monika Ortmann, Jörg Schaper, Arndt Borkhardt, Hans-Jürgen Laws, Michaela Kuhlen

المصدر: BMC Infectious Diseases, Vol 18, Iss 1, Pp 1-4 (2018)

مصطلحات موضوعية: Mycobacterium tuberculosis infection, Lymphnode tuberculosis, Relapsed ganglioneuroblastoma, Interferon gamma release assay, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12879-018-3016-x; https://doaj.org/toc/1471-2334

URL الوصول: https://doaj.org/article/d85ccfc8102041b39ca229e518abb63b

المؤلفون: Ariane Schmetz, Jörg Schaper, Simon Thelen, Majeed Rana, Thomas Klenzner, Katharina Schaumann, Jasmin Beygo, Harald Surowy, Hermann-Josef Lüdecke, Dagmar Wieczorek

المصدر: Genes; Volume 14; Issue 3; Pages: 724

مصطلحات موضوعية: FGF9, multiple synostoses syndrome type 3, SYNS3, cleft palate, craniosynostoses, fusion of interphalangeal joints, whole exome sequencing, human genetics

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14030724

الاتاحة: https://doi.org/10.3390/genes14030724

المؤلفون: Daniel Tibussek, Sujal Ghosh, Angela Huebner, Joerg Schaper, Ertan Mayatepek, Katrin Koehler

المصدر: BMC Pediatrics, Vol 18, Iss 1, Pp 1-5 (2018)

مصطلحات موضوعية: Allgrove syndrome, Achalasia, Alacrimia, Adrenal failure, Autonomic, Neuropathy, Pediatrics, RJ1-570

Relation: http://link.springer.com/article/10.1186/s12887-017-0973-y; https://doaj.org/toc/1471-2431; https://doaj.org/article/5106d63024d548bda4249451a0f4bf1c

الاتاحة: https://doi.org/10.1186/s12887-017-0973-y
https://doaj.org/article/5106d63024d548bda4249451a0f4bf1c

المؤلفون: Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, Petra Gierthmuehlen, Jörg Schaper, Daniel Schlieper, Maria Wehner, Holger Thiele, Jorge Frank, Regina C. Betz, Silke Redler

المصدر: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG. 20(6)

مصطلحات موضوعية: Tumor Suppressor Proteins, Humans, Dermatology, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359675d32ccd8a358cc88b6731789fb1
https://pubmed.ncbi.nlm.nih.gov/35711055

المؤلفون: Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, Petra Gierthmuehlen, Jörg Schaper, Daniel Schlieper, Maria Wehner, Holger Thiele, Jorge Frank, Regina C. Betz, Silke Redler

المصدر: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG. 20(6)

مصطلحات موضوعية: Phenotype, Tumor Suppressor Proteins, Mutation, Humans, Dermatology, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a328ecb152c91656907d06609ac952d
https://pubmed.ncbi.nlm.nih.gov/35593033

المؤلفون: Birgit Budde, Mila Beyer, Jörg Schipper, Birgit Lorenz, Boris Görg, Ulrich Zechner, Hans-Jörg Wittsack, Diran Herebian, Christopher Pfleger, Hanno J. Bolz, Janine Altmüller, Jörg Schaper, Natalia Qvartskhava, Markus N. Preising, Dieter Häussinger, Alfons Schnitzler, Holger Gohlke, Mohammad R. Toliat, Peter Nürnberg, Christoph Friedburg, Michele Bonus, Helge J. Zöllner, Dirk Klee

المصدر: The FASEB Journal. 33:11507-11527

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Biallelic Mutation, Taurine, animal structures, Consanguinity, Biology, medicine.disease, Disease gene identification, Biochemistry, Molecular biology, Transmembrane protein, Solute carrier family, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, chemistry, Genetics, medicine, Molecular Biology, 030217 neurology & neurosurgery, Exome sequencing, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::09c6dc5010efc24144413470e7e7116c
https://doi.org/10.1096/fj.201900914rr

المؤلفون: Gijs W. E. Santen, Ulrike A. Nuber, Alina Filatova, Renata Posmyk, Dagmar Wieczorek, Krzysztof Szczałuba, Maja Hempel, Marion B. Lechler, Linda K. Rey, Jörg Schaper

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Mutant, General Physics and Astronomy, 02 engineering and technology, medicine.disease_cause, Corpus Callosum, Mice, Loss of Function Mutation, SMARCB1, Child, lcsh:Science, Mutation, Multidisciplinary, SMARCB1 Protein, 021001 nanoscience & nanotechnology, Magnetic Resonance Imaging, Experimental models of disease, Child, Preschool, Choroid plexus, Female, 0210 nano-technology, Hand Deformities, Congenital, Neuroglia, medicine.medical_specialty, Science, Micrognathism, Primary Cell Culture, Mice, Transgenic, Biology, Development, General Biochemistry, Genetics and Molecular Biology, Chromatin remodeling, Article, 03 medical and health sciences, Intellectual Disability, Developmental biology, medicine, Animals, Humans, Abnormalities, Multiple, Allele, Coffin–Siris syndrome, Alleles, Corpus Callosum Agenesis, Infant, Development of the nervous system, General Chemistry, medicine.disease, Embryo, Mammalian, Disease Models, Animal, 030104 developmental biology, Face, lcsh:Q, Agenesis of Corpus Callosum, Neck

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d35f87df9b27e94b9e36b8991855b1be
https://doaj.org/article/66e16b61abb241279ef0843df3598a01

المؤلفون: Martin Zenker, Melanie Föhrenbach, Christiane Zweier, Triantafyllia Brozou, Bernt Popp, Petra Muschke, Silke Redler, Harald Surowy, Arndt Borkhardt, Jörg Schaper, Dagmar Wieczorek, Rami Abou Jamra, Linda K. Rey

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Genotype, Developmental Disabilities, Mutation, Missense, 030105 genetics & heredity, Short stature, Frameshift mutation, 03 medical and health sciences, Loss of Function Mutation, Intellectual Disability, Genetics, Humans, Medicine, Missense mutation, Exome, Genetic Predisposition to Disease, ddc:610, Child, Frameshift Mutation, Genetics (clinical), business.industry, medicine.disease, QRICH1, Pediatric cancer, DNA-Binding Proteins, Developmental disorder, Phenotype, 030104 developmental biology, Codon, Nonsense, Autism spectrum disorder, Child, Preschool, Speech delay, Female, medicine.symptom, business, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d628f62a2d138b9b55e38f7fd65bd87
https://opus4.kobv.de/opus4-fau/files/15861/CGE_CGE13853.pdf

المؤلفون: Martin Zenker, Dagmar Wieczorek, Triantafyllia Brozou, Petra Muschke, Linda K. Rey, Bernt Popp, Silke Redler, Melanie Föhrenbach, Jörg Schaper, Harald Surowy, Arndt Borkhardt, Rami Abou Jamra, Christiane Zweier

مصطلحات موضوعية: Genetics, Genotype, Biology, Phenotype, QRICH1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7c4a85478b9de64cff313b542f8c78a
https://doi.org/10.1111/cge.13853/v3/response1

المؤلفون: Unaa Lee, Jennifer Neubert, Dominik Wulf, Tim Niehues, Björn Jensen, Thomas Hoehn, Julia Franzel, Felix Distelmaier, Sujal Ghosh, Martin Andree Berghäuser, Lars Dinkelbach, Jörg Schaper

المصدر: Klinische Pädiatrie

مصطلحات موضوعية: Lung Diseases, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Pneumonia, Viral, Cardiomyopathy, Pulmonary disease, Betacoronavirus, COVID-19 Testing, Pandemic, medicine, Humans, Pediatrics, Perinatology, and Child Health, Child, Pandemics, Immunodeficiency, Cardiomyopathy, Restrictive, biology, business.industry, Clinical Laboratory Techniques, SARS-CoV-2, COVID-19, medicine.disease, biology.organism_classification, Virology, Pneumonia, Pediatrics, Perinatology and Child Health, Wolff-Parkinson-White Syndrome, business, Coronavirus Infections

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4519b1473baa34a5bd25781895ae941
https://pubmed.ncbi.nlm.nih.gov/32767294

المؤلفون: Jörg Schaper, Arndt Borkhardt, Sebastian Ginzel, Torsten Pietsch, Jessica I. Hoell, Thorsten Rosenbaum, Michaela Kuhlen, Celine Chiu, Stefanie Loth

المصدر: Familial cancer 18(3), 353-358 (2019). doi:10.1007/s10689-019-00121-z

مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, medicine.medical_treatment, Fulminant, genetics [DNA-Binding Proteins], SON protein, human, 030105 genetics & heredity, Minor Histocompatibility Antigens, Cancer syndrome, Consanguinity, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, Café au lait spot, Internal medicine, Genetics, medicine, Humans, Point Mutation, genetics [Cerebellar Neoplasms], ddc:610, Cerebellar Neoplasms, Survival rate, Genetics (clinical), Medulloblastoma, Chemotherapy, genetics [Medulloblastoma], business.industry, Cafe-au-Lait Spots, genetics [Cafe-au-Lait Spots], Multimodal therapy, Syndrome, genetics [Minor Histocompatibility Antigens], medicine.disease, Pedigree, DNA-Binding Proteins, Radiation therapy, Child, Preschool, 030220 oncology & carcinogenesis, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9a0c20f4f13c086f0cc9cb4730bd2c5
https://doi.org/10.1007/s10689-019-00121-z

المؤلفون: Alexander Tschischka, Dirk Klee, Gerald Antoch, Johannes Boos, Jörg Schaper, Markus Eichner, Christoph Schleich, Joel Aissa

المصدر: Pediatric Radiology. 48:1008-1012

مصطلحات موضوعية: Male, Adolescent, Lumbar vertebrae, Normal values, 030218 nuclear medicine & medical imaging, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Bone Marrow, Reference Values, medicine, Humans, Effective diffusion coefficient, Radiology, Nuclear Medicine and imaging, Child, Retrospective Studies, Neuroradiology, Lumbar Vertebrae, medicine.diagnostic_test, business.industry, Ultrasound, Age Factors, Infant, Newborn, Infant, Magnetic resonance imaging, body regions, Diffusion Magnetic Resonance Imaging, medicine.anatomical_structure, Child, Preschool, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Female, Lumbar spine, business, Nuclear medicine, Diffusion MRI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::431c11ddd9e84f6697c0805e7c6c7899
https://doi.org/10.1007/s00247-018-4119-7

المؤلفون: Gerald Antoch, Bernd Turowski, Dirk Klee, C Rademacher, Julian Caspers, Daniel Tibussek, Jörg Schaper

المصدر: RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren. 189:S1-S124

مصطلحات موضوعية: Radiology, Nuclear Medicine and imaging

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9c6a357d66c2ee797ec1165edb13fdf2
https://doi.org/10.1055/s-0037-1600325

المؤلفون: Dirk Klee, Jörg Schaper, Gerald Antoch, Hans-Jürgen Laws, Hans-Jörg Wittsack, K Weil

المصدر: 56. Jahrestagung der Gesellschaft für Pädiatrische Radiologie.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b3cc0a9a623d49974983ed693fd20e9e
https://doi.org/10.1055/s-0039-1693798

المؤلفون: Thomas Meitinger, Sonja Budaeus, Tim M. Strom, Annette Seibt, Bader Alhaddad, Felix Distelmaier, Jörg Schaper, Holger Prokisch, Ertan Mayatepek, Tobias B. Haack, Fabian Baertling

المصدر: Metab. Brain Dis. 32, 267-270 (2017)

مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial encephalomyopathy, Pathology, medicine.medical_specialty, Valine-tRNA Ligase, Mitochondrial disease, DNA Mutational Analysis, Cardiomyopathy, Biology, Compound heterozygosity, Corpus callosum, Biochemistry, 03 medical and health sciences, Cellular and Molecular Neuroscience, HLA Antigens, Mitochondrial Encephalomyopathies, medicine, Humans, Exome, Exome sequencing, Epilepsy, Cardiomyopathy, Hypertrophic, medicine.disease, VARS2, OXPHOS, Aminoacyl tRNA synthtetas, Hypoplasia, 030104 developmental biology, Mutation, Neurology (clinical), Severe lactic acidosis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95a8aeed3f643e1674dac8f7c9d6c21e
https://doi.org/10.1007/s11011-016-9890-2

المؤلفون: Ertan Mayatepek, Jörg Schaper, Holger Prokisch, Fabian Baertling, Tobias B. Haack, Thomas Meitinger, Felix Distelmaier, Dirk Klee

المصدر: Child's Nervous System. 32:2077-2083

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Candidate gene, Pathology, Mitochondrial Diseases, Mitochondrial disease, Neuroimaging, 03 medical and health sciences, 0302 clinical medicine, Basal ganglia, medicine, Humans, Child, Cerebellar hypoplasia, Corpus Callosum Dysgenesis, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Neurosurgery, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9ba93d78bdcf372b68edf7238bc82a
https://doi.org/10.1007/s00381-016-3190-3

المؤلفون: Dagmar Wieczorek, Silke Redler, Rami Abou Jamra, Jörg Schaper, Diana Le Duc, Susanne Horn

المصدر: European journal of medical genetics. 63(2)

مصطلحات موضوعية: Male, Cerebellum, Pathology, medicine.medical_specialty, Heterozygote, Degeneration (medical), Disease, Compound heterozygosity, Young Adult, Cerebellar Diseases, Genetics, medicine, Humans, Child, Genetics (clinical), Genetic Association Studies, Exosome Multienzyme Ribonuclease Complex, business.industry, Siblings, Homozygote, RNA-Binding Proteins, General Medicine, medicine.disease, Phenotype, Pons, Hypoplasia, medicine.anatomical_structure, Mutation, Female, business, Neurocognitive

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f69b42d53fefdc8f9a500d9f1cdd3c83
https://pubmed.ncbi.nlm.nih.gov/30986545

المؤلفون: Lana Vukadin, David L. Stachura, Hyun Kyung Kong, Jos M. T. Draaisma, Joshua K. Stone, Dagmar Wieczorek, Ssang-Taek Lim, Christianne M. Hoeberigs, Maja Hempel, Kristine K. Bachman, Yue Cindy Si, Eun Young Park, Tamison Jewett, Lisenka E.L.M. Vissers, Margje Sinnema, Deepali N. Shinde, Eun-Young Erin Ahn, Ganka Douglas, Mathieu Lemaire, Kristin Lindstrom, David Chitayat, Jung-Hyun Kim, Alexander Richard, Andrea H. Seeley, Kirsty McWalter, Jörg Schaper

المساهمون: MUMC+: DA KG Polikliniek (9), MUMC+: DA BV Medisch Specialisten Radiologie (9), RS: FHML non-thematic output

المصدر: Kidney Int
Kidney International, 95(6), 1494-1504. Elsevier Science
Kidney International, 95, 6, pp. 1494-1504
Kidney International, 95, 1494-1504

مصطلحات موضوعية: 0301 basic medicine, Male, PKD1, Medizin, 030232 urology & nephrology, PROTEIN, CHILDREN, Haploinsufficiency, genetic mutations, Bioinformatics, 0302 clinical medicine, RNA Precursors, Medicine, Child, Gene knockdown, Kidney, medicine.diagnostic_test, Unilateral renal hypoplasia, DNA-Binding Proteins, medicine.anatomical_structure, Nephrology, Child, Preschool, Female, Adult, TRPP Cation Channels, Adolescent, RNA Splicing, INTELLECTUAL-DISABILITY, Article, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Minor Histocompatibility Antigens, 03 medical and health sciences, Splicing factor, KIDNEY, pediatric nephrology, Humans, Genetic Testing, Genetic testing, Vesico-Ureteral Reflux, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, business.industry, MUTATIONS, Horseshoe kidney, medicine.disease, 030104 developmental biology, HEK293 Cells, Urogenital Abnormalities, pre-mRNA splicing, gene expression, BRANCHING MORPHOGENESIS, SON haploinsufficiency, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd5581d1428808ee60d294f76b259509
https://pubmed.ncbi.nlm.nih.gov/31005274