المؤلفون: Pei Jin Lim, Severin Marfurt, Uschi Lindert, Lennart Opitz, Timothée Ndarugendamwo, Pakeerathan Srikanthan, Martin Poms, Martin Hersberger, Claus-Dieter Langhans, Dorothea Haas, Marianne Rohrbach, Cecilia Giunta

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: X-linked osteogenesis imperfecta, connective tissue, transcriptomics, MBTPS2, site 2 protease, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.662751/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/9bee465ed539427a92a499a68432087a

المؤلفون: Alma Osmanovic, Isabel Gogol, Helge Martens, Maylin Widjaja, Kathrin Müller, Olivia Schreiber-Katz, Friedrich Feuerhake, Claus-Dieter Langhans, Gunnar Schmidt, Peter M. Andersen, Albert C. Ludolph, Jochen H. Weishaupt, Frank Brand, Susanne Petri, Ruthild G. Weber

المصدر: Genes; Volume 13; Issue 1; Pages: 84

مصطلحات موضوعية: amyotrophic lateral sclerosis, DHTKD1, neurodegeneration, Charcot-Marie-Tooth disease type 2, 2-aminoadipic and 2-oxoadipic aciduria, lower motor neuron, whole-exome sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13010084

الاتاحة: https://doi.org/10.3390/genes13010084

المؤلفون: Olaf Sommerburg, Susanne Hämmerling, S. Philipp Schneider, Jürgen Okun, Claus-Dieter Langhans, Patricia Leutz-Schmidt, Mark O. Wielpütz, Werner Siems, Simon Y. Gräber, Marcus A. Mall, Mirjam Stahl

المصدر: Antioxidants; Volume 10; Issue 3; Pages: 483

مصطلحات موضوعية: cystic fibrosis, CFTR modulators, therapy, retinol, vitamin E, hypervitaminosis A

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Aberrant Oxidation of Biomolecules; https://dx.doi.org/10.3390/antiox10030483

الاتاحة: https://doi.org/10.3390/antiox10030483

المؤلفون: Anas Al Aidaros, Charu Sharma, Claus-Dieter Langhans, Jürgen G. Okun, Georg F. Hoffmann, Majed Dasouki, Pranesh Chakraborty, Fatma Aljasmi, Osama Y. Al-Dirbashi

المصدر: Metabolites; Volume 10; Issue 10; Pages: 400

مصطلحات موضوعية: plasma fatty acids, targeted metabolomics, liquid chromatography-tandem mass spectrometry, derivatization, inborn errors of metabolism

وصف الملف: application/pdf

Relation: Integrative Metabolomics; https://dx.doi.org/10.3390/metabo10100400

الاتاحة: https://doi.org/10.3390/metabo10100400

المؤلفون: Péter Monostori, Glynis Klinke, Jana Hauke, Sylvia Richter, Jörgen Bierau, Sven F Garbade, Georg F Hoffmann, Claus-Dieter Langhans, Dorothea Haas, Jürgen G Okun

المصدر: PLoS ONE, Vol 14, Iss 2, p e0212458 (2019)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/eb684ed25e2b49e286f3b6ec96f5041f

المؤلفون: Ana Cecilia Mestre Citrinovitz, Jana Hauke, Julia Jauckus, Claus-Dieter Langhans, Kathrin Schwarz, Markus Zorn, Thomas Strowitzki, Juergen G. Okun, Ariane Germeyer

المصدر: Journal of assisted reproduction and genetics. 39(12)

مصطلحات موضوعية: Reproductive Medicine, Genetics, Obstetrics and Gynecology, General Medicine, Genetics (clinical), Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97a49ab3bb01907954bec223f5a7cee0
https://pubmed.ncbi.nlm.nih.gov/36308613

المؤلفون: Wolfgang Stremmel, Kathrin V Schmidt, Vera Schuhmann, Frank Kratzer, Sven F Garbade, Claus-Dieter Langhans, Gert Fricker, Jürgen G Okun

المصدر: PLoS ONE, Vol 12, Iss 1, p e0170742 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5271338?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/0ba801a5be684f4eb5564a30cb958479

المؤلفون: Sven F. Garbade, Heiko Brennenstuhl, Thomas Opladen, Georg F. Hoffmann, Jürgen G. Okun, Patrik Feyh, Claus-Dieter Langhans

المصدر: Molecular Genetics and Metabolism. 131:163-170

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Metabolite, Vanillactic acid, Urine, 030105 genetics & heredity, Biochemistry, Vanilmandelic Acid, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Internal medicine, Mole, Genetics, medicine, Humans, Vanillylmandelic acid, Child, Amino Acid Metabolism, Inborn Errors, Molecular Biology, chemistry.chemical_classification, Creatinine, Infant, Homovanillic Acid, Diagnostic marker, chemistry, Aromatic-L-Amino-Acid Decarboxylases, Child, Preschool, Female, Biomarkers, 030217 neurology & neurosurgery, Organic acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06a7f2595315ad31336e533c89fb521e
https://doi.org/10.1016/j.ymgme.2020.07.001

المؤلفون: Alma Osmanovic, Isabel Gogol, Helge Martens, Maylin Widjaja, Kathrin Müller, Olivia Schreiber-Katz, Friedrich Feuerhake, Claus-Dieter Langhans, Gunnar Schmidt, Peter M. Andersen, Albert C. Ludolph, Jochen H. Weishaupt, Frank Brand, Susanne Petri, Ruthild G. Weber

المصدر: Genes, Vol 13, Iss 84, p 84 (2022)
Genes; Volume 13; Issue 1; Pages: 84

مصطلحات موضوعية: amyotrophic lateral sclerosis, Neurologi, Medizin, neurodegeneration, Neurosciences, QH426-470, 2-aminoadipic and 2-oxoadipic aciduria, Amyotrophic lateral sclerosis, DHTKD1, Neurology, Whole-exome sequencing, Genetics, Charcot-Marie-Tooth disease type 2, lower motor neuron, whole-exome sequencing, Lower motor neuron, Neurodegeneration, Genetics (clinical), Neurovetenskaper

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0275e399a7219cd699419ec82dfd0b43
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-191091

المؤلفون: Alma, Osmanovic, Isabel, Gogol, Helge, Martens, Maylin, Widjaja, Kathrin, Müller, Olivia, Schreiber-Katz, Friedrich, Feuerhake, Claus-Dieter, Langhans, Gunnar, Schmidt, Peter M, Andersen, Albert C, Ludolph, Jochen H, Weishaupt, Frank, Brand, Susanne, Petri, Ruthild G, Weber

المصدر: Genes

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Heterozygote, amyotrophic lateral sclerosis, neurodegeneration, Pilot Projects, Middle Aged, Prognosis, 2-aminoadipic and 2-oxoadipic aciduria, Article, DHTKD1, Europe, Phenotype, Case-Control Studies, Mutation, Humans, Female, Ketoglutarate Dehydrogenase Complex, whole-exome sequencing, lower motor neuron, Charcot-Marie-Tooth disease type 2, Aged, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a03c0809216a98835e6e3e661f2531f7
https://pubmed.ncbi.nlm.nih.gov/35052424

المؤلفون: Olaf Sommerburg, Silke De Spirt, Annett Mattern, Cornelia Joachim, Claus-Dieter Langhans, Kalanithi Nesaretnam, Werner Siems, Wilhelm Stahl, Marcus A. Mall

المصدر: Mediators of Inflammation, Vol 2015 (2015)

مصطلحات موضوعية: Pathology, RB1-214

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0962-9351; https://doaj.org/toc/1466-1861

URL الوصول: https://doaj.org/article/539c11e1b6dd480185312260a7d8cd45

المؤلفون: Olaf Sommerburg, Silke De Spirt, Annett Mattern, Cornelia Joachim, Claus-Dieter Langhans, Kalanithi Nesaretnam, Werner Siems, Wilhelm Stahl, Marcus A Mall

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://downloads.hindawi.com/journals/mi/2015/817127.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1071.5225; http://downloads.hindawi.com/journals/mi/2015/817127.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1071.5225
http://downloads.hindawi.com/journals/mi/2015/817127.pdf

المؤلفون: Nahid Al Dhahouri, Claus Dieter Langhans, Aisha M. Al-Shamsi, Osama Y. Al-Dirbashi, Jürgen G. Okun, Fatma Al-Jasmi, Khalid Al-Thihli, Majid Alfadhel, Georg F. Hoffmann, Jozef Hertecant, Zalikha Al Hammadi

المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, animal diseases, Methylmalonic acidemia, lcsh:Medicine, Predictive markers, Biochemistry, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Citrate synthase, Humans, Citrates, cardiovascular diseases, Propionic acidemia, lcsh:Science, Multidisciplinary, biology, lcsh:R, Metabolism, medicine.disease, Adenosylcobalamin, Pyruvate carboxylase, nervous system diseases, Citric acid cycle, 030104 developmental biology, chemistry, Case-Control Studies, biology.protein, cardiovascular system, Biological Assay, lcsh:Q, Dried Blood Spot Testing, Propionates, Citric acid, 030217 neurology & neurosurgery, Biomarkers, Metabolism, Inborn Errors, medicine.drug, Methylmalonic Acid, circulatory and respiratory physiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be040d0ae7ada9e9ab3b346a306c5b41
http://link.springer.com/article/10.1038/s41598-019-48885-9

المؤلفون: Claus-Dieter Langhans, Kathrin V. Schwarz, Ariane Germeyer, A C Mestre Citrinovitz, Julia Jauckus, T. Strowitzki, Jana Hauke, Markus Zorn, Jürgen G. Okun

المصدر: Human Reproduction. 36

مصطلحات موضوعية: chemistry.chemical_compound, Stromal cell, chemistry, Reproductive Medicine, Rehabilitation, Decidualization, Obstetrics and Gynecology, Fatty acid degradation, In vitro, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22b17025b5ed404a6c80ebee43b5b45d
https://doi.org/10.1093/humrep/deab130.306

المؤلفون: Jürgen G. Okun, Georg F. Hoffmann, Fatma Al-Jasmi, Claus-Dieter Langhans, Pranesh Chakraborty, Anas Al Aidaros, Majed Dasouki, Charu Sharma, Osama Y. Al-Dirbashi

المصدر: Metabolites, Vol 10, Iss 400, p 400 (2020)
Metabolites
Volume 10
Issue 10

مصطلحات موضوعية: 0301 basic medicine, Analyte, Endocrinology, Diabetes and Metabolism, lcsh:QR1-502, inborn errors of metabolism, Mass spectrometry, 01 natural sciences, Biochemistry, Article, lcsh:Microbiology, 03 medical and health sciences, chemistry.chemical_compound, Metabolomics, Liquid chromatography–mass spectrometry, derivatization, targeted metabolomics, liquid chromatography-tandem mass spectrometry, Derivatization, Molecular Biology, Detection limit, Chromatography, Chemistry, 010401 analytical chemistry, Metabolism, Orders of magnitude (mass), 0104 chemical sciences, 030104 developmental biology, plasma fatty acids

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe86311bcffe624719b2168e0dcd19d
https://www.mdpi.com/2218-1989/10/10/400

المؤلفون: Osama Y. Al-Dirbashi, Jürgen G. Okun, Fatma Al-Jasmi, Zalikha Al Hammadi, Georg F. Hoffmann, Claus-Dieter Langhans, Nahid Al Dhahouri

المصدر: Clinica Chimica Acta. 487:41-45

مصطلحات موضوعية: 0301 basic medicine, Propionic Acidemia, Clinical Biochemistry, Methylmalonic acidemia, Urine, Urinalysis, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tandem Mass Spectrometry, Liquid chromatography–mass spectrometry, medicine, Humans, Citrates, Propionic acidemia, Derivatization, Amino Acid Metabolism, Inborn Errors, Chromatography, Chemistry, Biochemistry (medical), General Medicine, medicine.disease, 030104 developmental biology, Methylmalonic aciduria, Gas chromatography–mass spectrometry, 030217 neurology & neurosurgery, Chromatography, Liquid, Urine organic acids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b62b2af5d3c20633751e49e57f07ae78
https://doi.org/10.1016/j.cca.2018.09.017

المؤلفون: Pei Jin Lim (10837986), Severin Marfurt (10837989), Uschi Lindert (10837992), Lennart Opitz (86036), Timothée Ndarugendamwo (10837995), Pakeerathan Srikanthan (10837998), Martin Poms (10838001), Martin Hersberger (118533), Claus-Dieter Langhans (3700843), Dorothea Haas (6411200), Marianne Rohrbach (3500558), Cecilia Giunta (3409991)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, X-linked osteogenesis imperfecta, connective tissue, transcriptomics, MBTPS2, site 2 protease

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Omics_Profiling_of_S2P_Mutant_Fibroblasts_as_a_Mean_to_Unravel_the_Pathomechanism_and_Molecular_Signatures_of_X-Linked_MBTPS2_Osteogenesis_Imperfecta_PDF/14635266

الاتاحة: https://doi.org/10.3389/fgene.2021.662751.s001

المؤلفون: Markus Munder, Henriette Schneider, Claudia Luckner, Thomas Giese, Claus-dieter Langhans, Pascale Kropf, Ingrid Mueller, Armin Kolb, Manuel Modolell, Anthony Ho, Immunobiology Articles, Dieter Langhans, José M. Fuentes, Anthony D. Ho

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://bloodjournal.hematologylibrary.org/content/early/2006/05/18/blood-2006-11-010389.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.6958; http://bloodjournal.hematologylibrary.org/content/early/2006/05/18/blood-2006-11-010389.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.6958
http://bloodjournal.hematologylibrary.org/content/early/2006/05/18/blood-2006-11-010389.full.pdf

المؤلفون: Markus Munder, Henriette Schneider, Claudia Luckner, Thomas Giese, Claus-dieter Langhans, M. Fuentes, Pascale Kropf, Ingrid Mueller, Armin Kolb, Manuel Modolell, Anthony D. Ho, Jose M. Fuentes

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://bloodjournal.hematologylibrary.org/content/108/5/1627.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.5366; http://bloodjournal.hematologylibrary.org/content/108/5/1627.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.5366
http://bloodjournal.hematologylibrary.org/content/108/5/1627.full.pdf

المؤلفون: Claus Dieter Langhans, Jürgen G. Okun, Philipp Koch, Kai Schledzewski, Sebastian A. Wohlfeil, Iris Augustin, Michael Boutros, Hellmut G. Augustin, Thomas Leibing, Johanna Zierow, Cyrill Géraud, Victor Olsavszky, Sergij Goerdt

المصدر: Hepatology. 68:707-722

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Hepatology, Wnt signaling pathway, Lipid metabolism, In situ hybridization, Biology, Arginase, 03 medical and health sciences, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Internal medicine, Hepatocyte, medicine, AXIN2, ARG1, Homeostasis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3b5d8f39102ea28050d5235b792cccf0
https://doi.org/10.1002/hep.29613