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1دورية أكاديمية
المؤلفون: Jie Song, Katrin Hinderhofer, Lilian T. Kaufmann, Nicola Benjamin, Christine Fischer, Ekkehard Grünig, Christina A. Eichstaedt
المصدر: Genes, Vol 11, Iss 10, p 1168 (2020)
مصطلحات موضوعية: BMPR2 promoter, pathogenic variant, heritable pulmonary arterial hypertension, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Laura Gieldon, Katrin Hinderhofer, Lilian T. Kaufmann, Anna Jauch, Ulrich Haug, Ute Moog, Katharina Obeid
المصدر: American Journal of Medical Genetics Part A. 185:1261-1265
مصطلحات موضوعية: Genetics, Intellectual impairment, Karyotype, Biology, medicine.disease, Phenotype, Exon, medicine.anatomical_structure, Autism spectrum disorder, Intellectual disability, medicine, Haploinsufficiency, Genetics (clinical), Germ cell
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المؤلفون: Nicola Benjamin, Christine Fischer, Lilian T. Kaufmann, Jie Song, Katrin Hinderhofer, Christina A. Eichstaedt, Ekkehard Grünig
المصدر: Genes
Genes, Vol 11, Iss 1168, p 1168 (2020)
Volume 11
Issue 10مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, BMPR2 Gene, Transfection, BMPR2 promoter, heritable pulmonary arterial hypertension, 030204 cardiovascular system & hematology, Biology, Penetrance, Article, BMPR2, lcsh:Genetics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Plasmid, pathogenic variant, Gene expression, Genetics, Cancer research, Bone morphogenetic protein receptor, Gene, Genetics (clinical)
وصف الملف: application/pdf
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المصدر: Differentiation. 93:27-38
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Embryo, Nonmammalian, Xenopus, Embryonic Development, Protocadherin, Xenopus Proteins, Protein degradation, Xenopus laevis, 03 medical and health sciences, Cell Movement, Animals, Protein Interaction Maps, Phosphorylation, Kinase activity, Wnt Signaling Pathway, Molecular Biology, biology, Kinase, Gastrulation, Wnt signaling pathway, Cell Polarity, Cell migration, Cell Biology, Cadherins, biology.organism_classification, Protocadherins, Cell biology, 030104 developmental biology, Cancer research, Mitogen-Activated Protein Kinases, Developmental Biology
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المؤلفون: Suat Özbek, Steffen Scholpp, Lilian T. Kaufmann, Yonglong Dang, Alexander Schug, Benjamin Mattes, Jakob Rosenbauer, David M. Virshup, Ralf Mikut, Johannes Stegmaier, Gediminas Greicius, Benedikt Prunsche, Gerd Ulrich Nienhaus
مصطلحات موضوعية: Catenin, Wnt signaling pathway, Biology, Cytoneme, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e12acc9c72f6263a653cfa44b19be0c0
https://doi.org/10.7554/elife.36953.025 -
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المؤلفون: Benjamin Mattes, Alexander Schug, Yonglong Dang, Gediminas Greicius, Gerd Ulrich Nienhaus, Johannes Stegmaier, Suat Özbek, Benedikt Prunsche, Steffen Scholpp, Ralf Mikut, Lilian T. Kaufmann, Jakob Rosenbauer, David M. Virshup
المصدر: eLife, 7, Article No. e36953
eLife
eLife, Vol 7 (2018)
eLife 7, e36953 (2018). doi:10.7554/eLife.36953مصطلحات موضوعية: 0301 basic medicine, Cell, Cell membrane, Mice, cytonemes, Pseudopodia, Biology (General), signalling, Receptor, Wnt Signaling Pathway, Zebrafish, beta Catenin, patterning, biology, General Neuroscience, Wnt signaling pathway, Cell Polarity, Gene Expression Regulation, Developmental, General Medicine, Cell biology, Autocrine Communication, medicine.anatomical_structure, Medicine, ddc:500, protein trafficking, Research Article, Cytoneme, Life sciences, QH301-705.5, Science, signalling filopodia, Receptor Tyrosine Kinase-like Orphan Receptors, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, ddc:570, Paracrine Communication, medicine, Animals, Humans, General Immunology and Microbiology, ROR2, Cell Biology, Zebrafish Proteins, biology.organism_classification, Wnt signaling, Wnt Proteins, Cytoskeletal Proteins, 030104 developmental biology, Catenin, Developmental Biology
وصف الملف: application/pdf
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7
المؤلفون: Claus R. Bartram, Nagarajan Paramasivam, Urania Kotzaeridou, Christina Evers, Christian Thiel, Stefan Kölker, Matthias Schlesner, Thomas Opladen, Georg F. Hoffmann, Stefan Wiemann, Katrin Hinderhofer, Martin Granzow, Roland Eils, Christian Staufner, Christine Fischer, Lilian T. Kaufmann, Ute Moog
المصدر: Molecular genetics and metabolism. 121(4)
مصطلحات موضوعية: 0301 basic medicine, Male, Polyhydramnios, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Biochemistry, Frameshift mutation, 03 medical and health sciences, Epilepsy, Endocrinology, Pregnancy, Exome Sequencing, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Megalencephaly, ddc:610, Molecular Biology, Exome sequencing, business.industry, Homozygote, Macrocephaly, Sequence Analysis, DNA, medicine.disease, Hypotonia, Pedigree, 030104 developmental biology, Molecular Diagnostic Techniques, Neurodevelopmental Disorders, Family Planning Services, Female, medicine.symptom, Nephrocalcinosis, business
وصف الملف: application/pdf
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المؤلفون: John C. Carey, Christine Fischer, Christiane Zweier, Claus R. Bartram, Matthias Schlesner, Lilian T. Kaufmann, Roland Eils, Nicola Dikow, Katrin Hinderhofer, Martin Granzow, Stephanie Karch, Laura Jane Behl, Ute Moog, Guntram Borck, Nagarajan Paramasivam, Christina Evers, Luitgard Graul-Neumann
المصدر: American journal of medical genetics. Part A. 173(5)
مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Heterozygote, Limb Deformities, Congenital, Biology, medicine.disease_cause, Craniofacial Abnormalities, DEAD-box RNA Helicases, 03 medical and health sciences, Genes, X-Linked, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Exome, ddc:610, Child, Genetics (clinical), Exome sequencing, Mutation, Pierre Robin Syndrome, Heterozygote advantage, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Urogenital Abnormalities, Pierre Robin syndrome, Female, Agenesis of Corpus Callosum, DDX3X
وصف الملف: application/pdf
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9
المؤلفون: Christof Niehrs, Lilian T. Kaufmann, Mathias S. Gierl
المصدر: Gene Expression Patterns
مصطلحات موضوعية: Organogenesis, Cellular differentiation, Xenopus, Embryonic Development, Cell Cycle Proteins, Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, Somitogenesis, Genetics, Animals, Molecular Biology, 030304 developmental biology, 0303 health sciences, Gadd45, Embryogenesis, Intracellular Signaling Peptides and Proteins, Gene Expression Regulation, Developmental, Nuclear Proteins, Cell Differentiation, Embryo, Mammalian, biology.organism_classification, Antigens, Differentiation, Cell biology, DNA demethylation, Organ Specificity, GADD45G, Female, GADD45B, Carrier Proteins, 030217 neurology & neurosurgery, Developmental Biology
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10
المؤلفون: Christof Niehrs, Lilian T. Kaufmann
المصدر: Mechanisms of Development
مصطلحات موضوعية: Embryology, Morpholino, Neurogenesis, Molecular Sequence Data, Xenopus, Embryonic Development, Cell Cycle Proteins, Xenopus Proteins, Biology, Xenopus laevis, 03 medical and health sciences, 0302 clinical medicine, Animals, Amino Acid Sequence, Neural cell, 030304 developmental biology, 0303 health sciences, Gadd45, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Neural crest, Cell Cycle Checkpoints, biology.organism_classification, Antigens, Differentiation, Molecular biology, DNA demethylation, Gene Knockdown Techniques, GADD45G, Neural development, 030217 neurology & neurosurgery, Developmental Biology
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