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1دورية أكاديمية
المؤلفون: Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts
المصدر: Genes, Vol 12, Iss 6, p 879 (2021)
مصطلحات موضوعية: VCRL, Catel–Manzke, KYNU, CAKUT, renal hypodysplasia, hypoplastic left heart, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Sarah C. Grünert, Uta Matysiak, Franka Hodde, Gunda Ruzaike, Ekkehart Lausch, Anke Schumann, Natascha van der Werf-Grohmann, Ute Spiekerkoetter, Miriam Schmidts
المصدر: Diagnostics, Vol 11, Iss 5, p 749 (2021)
مصطلحات موضوعية: IGF2, Silver–Russel syndrome, hypomethylation, hypoglycemia, growth hormone, Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Gunda Ruzaike, Andrea Avendaño, Colin E. Willoughby, Francisco Cammarata-Scalisi, Maykol Araya Castillo, Michele Callea, Antonio Cárdenas Tadich, Uta Matysiak, Houweyda Jilani, Ana Bracho, Carmen Zara-Chirinos
المصدر: Journal of Pediatric Genetics.
مصطلحات موضوعية: 0303 health sciences, Pathology, medicine.medical_specialty, Mutation, business.industry, Intron, macromolecular substances, medicine.disease, medicine.disease_cause, Short stature, Genu Valgum, 03 medical and health sciences, Exon, 0302 clinical medicine, Dysplasia, Pediatrics, Perinatology and Child Health, medicine, splice, Platyspondyly, medicine.symptom, business, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a20b3b232796cd58d7e87bc2756c0739
https://doi.org/10.1055/s-0041-1732474 -
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المؤلفون: Erik-Oliver Glocker, Jan Rohr, Nadia Saleh, Mehrnaz Mesdaghi, Christian Klemann, Robin Kobbe, Natalie Frede, Renate Abt, Peter Hasselblatt, Sigune Goldacker, Ronnie Chee, Naghi Dara, Mary Buchta, Florian Brinkert, Alla Bulashevska, Aisha Elmarsafy, Birol Öztürk, Paul Thankam, Nermeen Galal, Patrick Gerner, Jutta Hammermann, Mahboubeh M. Kharaghani, Katrin Hübscher, Gunda Ruzaike, Jutte Van Der Werff Ten Bosch, Lida Atarod, Safa Baris, Suranjith L. Seneviratne, Ana Cordeiro, Daniel Kotlarz, Sebastian Zeissig, Horst von Bernuth, Britt-Sabina Petersen, Yvonne Zeissig, Milos Jesenak, Gregor Dückers, Andre Franke, João Farela Neves, Sara Sebnem Kilic, Sally G. Mitton, Dietrich August, Zuzana Havlíčeková, Neslihan Edeer Karaca, T. Ronan Leahy, Bodo Grimbacher, Christoph Klein, Hemant Bhavsar, Moudjahed Saleh Al-Ddafari, Ebru Senol, Carsten Speckmann, Jessica L.R. Restrepo, Daniel Tegtmeyer, Ayca Kiykim, Martin W. Laass, Luis F. Pereira, Elif Karakoc-Aydiner
المساهمون: Clinical sciences, Growth and Development, Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Pediatrik İmmünoloji Anabilim Dalı., Kılıç, Sara Şebnem, AAH-1658-2021
مصطلحات موضوعية: 0301 basic medicine, Male, gastroenterology, Genome-wide association study, medicine.disease_cause, Bioinformatics, Inflammatory bowel disease, Interleukin-10 Receptors, Inflammatory Bowel Diseases, Immunosuppression, Prevalence, Immunology and Allergy, High throughput sequencing, Age of Onset, Imunodeficiency, Child, Infant colitis, Immunodeficiency, Exome sequencing, Mutation, Disorders, Variants, High-Throughput Nucleotide Sequencing, Telomere, Child, Preschool, Female, Mutations, Human, Diarrhea, Framework, Wiskott-aldrich syndrome, 03 medical and health sciences, Chronic diarrhea, Early-onset IBD, Genetic screening, Exome Sequencing, medicine, Genetics, Journal Article, Pathogenicity, Humans, Genetic Predisposition to Disease, Human genome, business.industry, Genetic predisposition, Whole exome sequencing, Infant, Newborn, Infant, medicine.disease, Newborn, digestive system diseases, 030104 developmental biology, Onset age, Preschool child, Dyskeratosis-congenita, Chronic Disease, Etiology, Next-generation sequencing, Age of onset, business, Gastroenterology & hepatology, Genome-Wide Association Study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1410e31a1932bf36de7f66bbd5614be0
https://hdl.handle.net/20.500.14017/226c4e28-a237-4494-bfb9-0233866baed5 -
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المؤلفون: Dirk Lebrecht, Stephan Schwarz, Julius Wehrle, I Baumann, Tim Ripperger, Ayami Yoshimi, Gudrun Göhring, Brigitte Strahm, Ronny Nienhold, Charlotte M. Niemeyer, Shinsuke Hirabayashi, Axel Karow, Gunda Ruzaike, Radek C. Skoda, Victor B Pastor, Christian Flotho, Emilia J Kozyra, Marcin W. Wlodarski, Marena R. Niewisch
المصدر: Leukemia. 31(3)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Cancer Research, Adolescent, Somatic cell, DNA Mutational Analysis, Biology, Germline, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, medicine, Humans, Child, Germ-Line Mutation, Genetics, Myelodysplastic syndromes, Hematology, medicine.disease, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Child, Preschool, Myelodysplastic Syndromes, Mutation, Female, human activities
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المؤلفون: Claudia Rossig, Sushree Sangita Sahoo, Charlotte M. Niemeyer, Hauke Busch, Steven E. Artandi, Brigitte Strahm, Caitlin M. Roake, Melanie Börries, Marena R. Niewisch, Victor B Pastor, Gunda Ruzaike, Marcin W. Wlodarski, Liliana Rindle, Markus Schmugge
المصدر: Blood. 128:3890-3890
مصطلحات موضوعية: Microcephaly, business.industry, Immunology, Cell Biology, Hematology, medicine.disease, Biochemistry, Pancytopenia, Immunologic Deficiency Syndromes, Holoenzymes, Severity of illness, medicine, Restrictive lung disease, business, Dyskeratosis congenita
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a762ec3bffd669306af5806f01a7029d
https://doi.org/10.1182/blood.v128.22.3890.3890 -
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المؤلفون: Tamas Farkas, Gunda Ruzaike, Marcin W. Wlodarski, Charlotte M. Niemeyer, Jessica Moetter, Alyson W. MacInnes, Paul B. Essers, Friedrich G. Kapp, Alexandra Fischer, Joerg J Meerpohl, Shinsuke Hirabayashi, Sandra Urbaniak
المصدر: ResearcherID
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Point mutation, Immunology, GATA1, KLF1, Cell Biology, Hematology, Biology, Bioinformatics, medicine.disease, Biochemistry, Internal medicine, Fetal hemoglobin, medicine, Diamond–Blackfan anemia, Haploinsufficiency, RRNA processing, Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1060bfbda96dd1585ca31316c30d597
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000313838902299&KeyUID=WOS:000313838902299 -
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المؤلفون: Sarah C. Grünert, Uta Matysiak, Franka Hodde, Gunda Ruzaike, Ekkehart Lausch, Anke Schumann, Natascha van der Werf-Grohmann, Ute Spiekerkoetter, Miriam Schmidts
المصدر: Diagnostics
Diagnostics, Vol 11, Iss 749, p 749 (2021)مصطلحات موضوعية: Medicine (General), R5-920, hypoglycemia, endocrine system diseases, growth hormone, IGF2, Case Report, Silver–Russel syndrome, female genital diseases and pregnancy complications, hypomethylation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a4a5240057f2769c640d6f420ac1e23a
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