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1دورية أكاديمية
المؤلفون: Alexandra Tibelius, Christina Evers, Sabrina Oeser, Isabelle Rinke, Anna Jauch, Katrin Hinderhofer
المصدر: Genes, Vol 14, Iss 12, p 2218 (2023)
مصطلحات موضوعية: glutaric aciduria, glutaric acidemia, glutaryl-CoA dehydrogenase, GCDH, inborn errors of metabolism, variant interpretation, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Vivienne Theobald, Ekkehard Grünig, Nicola Benjamin, Hans‐Jürgen Seyfarth, Michael Halank, Marc A. Schneider, Sarah Richtmann, Daniel Kazdal, Katrin Hinderhofer, Panagiota Xanthouli, Benjamin Egenlauf, Satenik Harutyunova, Marius M. Hoeper, Danny Jonigk, Richard Sparla, Martina U. Muckenthaler, Christina A. Eichstaedt
المصدر: Pulmonary Circulation, Vol 13, Iss 2, Pp n/a-n/a (2023)
مصطلحات موضوعية: genetics, hepcidin, iron homeostasis, pulmonary vascular disease, Diseases of the circulatory (Cardiovascular) system, RC666-701, Diseases of the respiratory system, RC705-779
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-8940
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3دورية أكاديمية
المؤلفون: Julia Rehnitz, Birgitta Messmer, Ulrike Bender, Xuan Phuoc Nguyen, Ariane Germeyer, Katrin Hinderhofer, Thomas Strowitzki, Edison Capp
المصدر: Reproductive Biology and Endocrinology, Vol 20, Iss 1, Pp 1-7 (2022)
مصطلحات موضوعية: Fragile X mental retardation 1 gene, AKT, Mammalian target of rapamycin, S6 kinase, Tuberous sclerosis complex 2, Premature ovarian insufficiency, Gynecology and obstetrics, RG1-991, Reproduction, QH471-489
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1477-7827
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4دورية أكاديمية
المؤلفون: Christina A. Eichstaedt, Zoe Saßmannshausen, Memoona Shaukat, Ding Cao, Panagiota Xanthouli, Henning Gall, Natascha Sommer, Hossein-Ardeschir Ghofrani, Hans-Jürgen Seyfarth, Marianne Lerche, Michael Halank, Janina Kleymann, Nicola Benjamin, Satenik Harutyunova, Benjamin Egenlauf, Katrin Milger, Stephan Rosenkranz, Ralf Ewert, Hans Klose, Marius M. Hoeper, Karen M. Olsson, Mareike Lankeit, Tobias J. Lange, Katrin Hinderhofer, Ekkehard Grünig
المصدر: Respiratory Research, Vol 23, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Pulmonary arterial hypertension, Genetic testing, Bi-allelic variants, Gene panel diagnostics, Diseases of the respiratory system, RC705-779
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1465-993X
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5دورية أكاديمية
المؤلفون: Birgit Weiss, Birgit Eberle, Ralph Roeth, Christiaan de Bruin, Julian C. Lui, Nagarajan Paramasivam, Katrin Hinderhofer, Hermine A. van Duyvenvoorde, Jeffrey Baron, Jan M. Wit, Gudrun A. Rappold
المصدر: Frontiers in Endocrinology, Vol 12 (2021)
مصطلحات موضوعية: oligogenic inheritance, non-syndromic tall stature, growth, ciliary genes, growth plate, exome sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Vivienne Theobald, Nicola Benjamin, Hans-Jürgen Seyfarth, Michael Halank, Marc A. Schneider, Sarah Richtmann, Katrin Hinderhofer, Panagiota Xanthouli, Benjamin Egenlauf, Rebekka Seeger, Marius M. Hoeper, Danny Jonigk, Ekkehard Grünig, Christina A. Eichstaedt
المصدر: Genes, Vol 13, Iss 5, p 759 (2022)
مصطلحات موضوعية: BMPR2 pathogenic variant, BMPR2 mRNA expression, pulmonary arterial hypertension, heritable pulmonary arterial hypertension, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Xuan Phuoc Nguyen, Adriana Vilkaite, Birgitta Messmer, Jens E. Dietrich, Katrin Hinderhofer, Knut Schäkel, Thomas Strowitzki, Julia Rehnitz
المصدر: Genes, Vol 13, Iss 3, p 451 (2022)
مصطلحات موضوعية: FMR1 premutation, FMRpolyG, premature ovarian insufficiency, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Julia Rehnitz, Diego D. Alcoba, Ilma S. Brum, Jens E. Dietrich, Berthe Youness, Katrin Hinderhofer, Birgitta Messmer, Alexander Freis, Thomas Strowitzki, Ariane Germeyer
المصدر: Reproductive Biology and Endocrinology, Vol 16, Iss 1, Pp 1-9 (2018)
مصطلحات موضوعية: FMR1 expression, Granulosa cells, FMR1 CGG repeat length, FMR1 genotype, Gynecology and obstetrics, RG1-991, Reproduction, QH471-489
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Marianne Lerche, Christina A. Eichstaedt, Katrin Hinderhofer, Ekkehard Grünig, Kristin Tausche, Tjalf Ziemssen, Michael Halank, Hubert Wirtz, Hans-Jürgen Seyfarth
المصدر: Pulmonary Circulation, Vol 9 (2019)
مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701, Diseases of the respiratory system, RC705-779
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-8940
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10
المؤلفون: Sophie Anker, Katrin Hinderhofer, Julian Baur, Christian Haupt, Christoph Röcken, Jörg Beimler, Martin Zeier, Markus Weiler, Elke Wühl, Christoph Kimmich, Stefan Schönland, Ute Hegenbart
المصدر: Amyloid. 29:245-254
مصطلحات موضوعية: Polyneuropathies, Gastrointestinal Diseases, Internal Medicine, Humans, Muramidase, Kidney Diseases, Amyloidosis, Amyloidosis, Familial