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1دورية أكاديمية
المؤلفون: Jörg Schmidtke, Peter Philipp, Kathrin Rommel, Ralf Glaubitz, Jörg T. Epplen, Michael Krawczak
المصدر: Genes, Vol 13, Iss 4, p 684 (2022)
مصطلحات موضوعية: genomics, England, panelapp, orphadata, eurogentest/ESHG, recommendations, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Sonia Pavan, Kathrin Rommel, María Elena Mateo Marquina, Sophie Höhn, Valérie Lanneau, Ana Rath
المصدر: PLoS ONE, Vol 12, Iss 1, p e0170365 (2017)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC5242437?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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المؤلفون: Tamara, Martin, Kathrin, Rommel, Carina, Thomas, Jutta, Eymann, Tanita, Kretschmer, Reinhard, Berner, Min Ae, Lee-Kirsch, Helge, Hebestreit
المصدر: Bundesgesundheitsblatt, Gesundheitsforschung, GesundheitsschutzLiteratur. 65(11)
مصطلحات موضوعية: Rare Diseases, International Classification of Diseases, Germany, Humans, Health Facilities, Delivery of Health Care
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ad663ab03f9d25d2211cde88ff922f59Test
https://pubmed.ncbi.nlm.nih.gov/36239768Test -
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المؤلفون: Tamara Martin, Kathrin Rommel, Carina Thomas, Jutta Eymann, Tanita Kretschmer, Reinhard Berner, Min Ae Lee-Kirsch, Helge Hebestreit
المصدر: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 65(11):1133-1142
مصطلحات موضوعية: Public Health, Environmental and Occupational Health, ORPHAcode, Human phenotype ontology, Alpha-ID-SE, Diagnosis, Rare diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59dc56947d4be702a65b3970548468bTest
https://repository.publisso.de/resource/frl:6438403Test -
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المؤلفون: U. Langenbeck, Joerg Schmidtke, E. Nyoungui, A. Dierking, M. Stuhrmann, Kathrin Rommel
المصدر: Medizinische Genetik. 22:213-220
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Genetics, medicine, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::01a0ee6a22f79c686f82e885c9c75efeTest
https://doi.org/10.1007/s11825-010-0219-yTest -
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المؤلفون: Bahar Söylen, Jörg Schmidtke, Krishna K. Singh, A Abuzainin, Hartmut Becker, Mine Arslan-Kirchner, Kathrin Rommel
المصدر: Clinical Genetics. 75:265-270
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, Marfan syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Systemic disease, Pathology, medicine.medical_specialty, Adolescent, Fibrillin-1, Receptor, Transforming Growth Factor-beta Type I, Protein Serine-Threonine Kinases, Gene mutation, Fibrillins, Loeys–Dietz syndrome, Marfan Syndrome, Aortic aneurysm, Ectasia, Prevalence, Genetics, medicine, Humans, Genetics (clinical), Aortic Aneurysm, Thoracic, business.industry, Dural ectasia, Microfilament Proteins, Receptor, Transforming Growth Factor-beta Type II, Syndrome, Middle Aged, medicine.disease, Mutation, Female, Dura Mater, business, Receptors, Transforming Growth Factor beta, Fibrillin, Dilatation, Pathologic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::532d2fde5d56a7c8d0cf21910fb55e6bTest
https://doi.org/10.1111/j.1399-0004.2008.01126.xTest -
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المؤلفون: Mine Arslan-Kirchner, Götz Müller, Jörg Schmidtke, Meike Rybczynski, Yskert von Kodolitsch, Matthias Karck, Axel Haverich, Kathrin Rommel, Krishna K. Singh
المصدر: Human Mutation. 26:529-539
مصطلحات موضوعية: musculoskeletal diseases, Marfan syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Fibrillin-1, DNA Mutational Analysis, Biology, Fibrillins, Marfan Syndrome, Frameshift mutation, Meta-Analysis as Topic, Gene duplication, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Cysteine, Genetic Testing, Genetics (clinical), Polymorphism, Genetic, Microfilament Proteins, Single-strand conformation polymorphism, medicine.disease, Molecular biology, Phenotype, Mutation, Fibrillin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bee34f83d1447f0b4f2870e8ac1cdecdTest
https://doi.org/10.1002/humu.20239Test -
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المؤلفون: Martin Reinecke, Jörg Schmidtke, Kathrin Rommel
المصدر: Journal of community genetics. 2(2)
مصطلحات موضوعية: medicine.medical_specialty, Epidemiology, business.industry, Public health, Public Health, Environmental and Occupational Health, Alternative medicine, Medical school, Case Report, Rare cancer, language.human_language, German, Family medicine, medicine, language, business, Genetics (clinical), health care economics and organizations, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e2624915ba8d7d6b60fe92a0a3ad6deTest
https://pubmed.ncbi.nlm.nih.gov/22109795Test -
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المؤلفون: Krishna K. Singh, Mine Arslan-Kirchner, Jörg Schmidtke, Matthias Karck, Kathrin Rommel, Anjali Mishra, Axel Haverich
المصدر: Human mutation. 27(8)
مصطلحات موضوعية: musculoskeletal diseases, Marfan syndrome, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Connective Tissue Disorder, Adolescent, DNA Mutational Analysis, Mutation, Missense, Receptor, Transforming Growth Factor-beta Type I, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, Loeys–Dietz syndrome, Marfan Syndrome, Cohort Studies, Aortic aneurysm, Genetics, medicine, Humans, Allele, Child, Genetics (clinical), Alleles, Mutation, Polymorphism, Genetic, Aortic Aneurysm, Thoracic, Point mutation, Receptor, Transforming Growth Factor-beta Type II, Syndrome, Middle Aged, medicine.disease, Pedigree, Codon, Nonsense, Female, Fibrillin, Activin Receptors, Type I, Receptors, Transforming Growth Factor beta
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee45bf85b86a847cee8248bb1a5ed5c6Test
https://pubmed.ncbi.nlm.nih.gov/16799921Test -
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المؤلفون: Praphulla C. Shukla, Mine Arslan-Kirchner, Jörg Schmidtke, Kathrin Rommel, Krishna K. Singh
المصدر: European journal of human genetics : EJHG. 14(7)
مصطلحات موضوعية: musculoskeletal diseases, Proband, Marfan syndrome, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, 5' Flanking Region, Fibrillin-1, Molecular Sequence Data, Receptor, Transforming Growth Factor-beta Type I, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, Fibrillins, Marfan Syndrome, Cohort Studies, Exon, Genetics, medicine, Coding region, Humans, Amino Acid Sequence, Gene, Genetics (clinical), Sequence (medicine), Mutation, Polymorphism, Genetic, Base Sequence, Alternative splicing, Microfilament Proteins, Receptor, Transforming Growth Factor-beta Type II, Exons, Middle Aged, medicine.disease, Alternative Splicing, Female, Activin Receptors, Type I, Receptors, Transforming Growth Factor beta
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8030197bc2cd0f91e4af044145fd5a6Test
https://pubmed.ncbi.nlm.nih.gov/16617303Test