المؤلفون: Martina Di Stasi, Kshitij Mankad, Olivia Carney, Ulrike Loebel, Asthik Biswas, Sniya Sudhakar, Veronica Kinsler, Felice D’Arco

المصدر: Neuroradiology. 65:1077-1086

مصطلحات موضوعية: Radiology, Nuclear Medicine and imaging, Neurology (clinical), Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7fc7bc3f843b75778bba4ff6a7def237
https://doi.org/10.1007/s00234-023-03150-9

المؤلفون: Philipp Guder, Ulrike Löbel, Britta Fiebig, Ilena Oppermann, Angelika Berger, Annette Bley

المصدر: Brain Disorders, Vol 2, Iss , Pp 100006- (2021)

مصطلحات موضوعية: Hypomyelinating leukodystrophy, Nkx6–2 gene, Spax8, Nystagmus, Developmental delay, Neurology. Diseases of the nervous system, RC346-429

Relation: http://www.sciencedirect.com/science/article/pii/S2666459321000056; https://doaj.org/toc/2666-4593; https://doaj.org/article/c82d41237df345758864c96cd1f0c965

الاتاحة: https://doi.org/10.1016/j.dscb.2021.100006
https://doaj.org/article/c82d41237df345758864c96cd1f0c965

المؤلفون: Sara Lorio, Jan Sedlacik, Po-Wah So, Harold G. Parkes, Roxana Gunny, Ulrike Löbel, Yao-Feng Li, Olumide Ogunbiyi, Talisa Mistry, Emma Dixon, Sophie Adler, J. Helen Cross, Torsten Baldeweg, Thomas S. Jacques, Karin Shmueli, David W Carmichael

المصدر: NeuroImage, Vol 238, Iss , Pp 118102- (2021)

مصطلحات موضوعية: Focal cortical dysplasia, Malformation of cortical development, Quantitative magnetic susceptibility, Drug-resistant epilepsy, Brain mineral content, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

Relation: http://www.sciencedirect.com/science/article/pii/S1053811921003797; https://doaj.org/toc/1095-9572; https://doaj.org/article/ec6b134050a74e128716af29f14126b8

الاتاحة: https://doi.org/10.1016/j.neuroimage.2021.118102
https://doaj.org/article/ec6b134050a74e128716af29f14126b8

المؤلفون: Nazreen Kamarus Jaman, Preeya Rehsi, Robert H. Henderson, Ulrike Löbel, Kshitij Mankad, Stephanie Grunewald

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: SRD5A3-CDG, steroid 5 alpha reductase deficiency, emerging phenotypic features, retinal dystrophy, congenital disorder of glycosylation, CDG, Genetics, QH426-470

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.737094/full; https://doaj.org/toc/1664-8021; https://doaj.org/article/2c1a32e28fbe4d858ef21bf2008b43ac

الاتاحة: https://doi.org/10.3389/fgene.2021.737094
https://doaj.org/article/2c1a32e28fbe4d858ef21bf2008b43ac

المؤلفون: Stefania Picariello, Ulrike Loebel, Felice D'Arco, Kristian Aquilina, Kshitij Mankad, Emma A. Lim, César Augusto Pinheiro Ferreira Alves, Sotirios Bisdas

المصدر: Child's Nervous System. 38:33-50

مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, business.industry, MEDLINE, Neuroimaging, Magnetic resonance imaging, General Medicine, Magnetic Resonance Imaging, Pineal Gland, Diagnosis, Differential, Neoplasms, Radiological weapon, Pediatrics, Perinatology and Child Health, medicine, Humans, Prospective Studies, Neurology (clinical), Neurosurgery, Radiology, Differential diagnosis, Child, business, Radiation treatment planning, Paediatric population

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::969ef93b2a7b91e4bc069b2f0a062b83
https://doi.org/10.1007/s00381-021-05359-6

المؤلفون: Ulrike Löbel, Nils Daniel Forkert, Peter Schmitt, Thorsten Dohrmann, Maria Schroeder, Tim Magnus, Stefan Kluge, Christina Weiler-Normann, Xiaoming Bi, Jens Fiehler, Jan Sedlacik

المصدر: PLoS ONE, Vol 12, Iss 2, p e0172450 (2017)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC5308608?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/f75f602b1b68437fabcc190b528531dd

الاتاحة: https://doi.org/10.1371/journal.pone.0172450
https://doaj.org/article/f75f602b1b68437fabcc190b528531dd

المؤلفون: Ulrike Löbel, Nils Daniel Forkert, Peter Schmitt, Thorsten Dohrmann, Maria Schroeder, Tim Magnus, Stefan Kluge, Christina Weiler-Normann, Xiaoming Bi, Jens Fiehler, Jan Sedlacik

المصدر: PLoS ONE, Vol 11, Iss 11, p e0164863 (2016)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC5089757?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/1990b82e265142cb9c2b860283810bd0

الاتاحة: https://doi.org/10.1371/journal.pone.0164863
https://doaj.org/article/1990b82e265142cb9c2b860283810bd0

المؤلفون: Kriti Hegde, Christine Dahl, Sarita Depani, Darren Hargrave, Minou Oostveen, Fernando Aguirregomezcorta, Owase Jeelani, Kristian Aquilina, Jenny Gains, Yen Ching, Thomas Jacues, Ashirwad Merve, Jane Chalker, Dilys Addy, Saira W Ahmed, Shireen Yasin, Kshitij Mankad, Olivia Carney, Sniya Sudhakar, Felice D'Arco, Ulrike Loebel, Mette Jorgensen

المصدر: Neuro-Oncology. 24:i67-i68

مصطلحات موضوعية: Cancer Research, Oncology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7232e692f71f52c92d8593d1a6178f94
https://doi.org/10.1093/neuonc/noac079.247

المؤلفون: Christine Dahl, Sarita Depani, Kriti Hedges, Fernando Aguirregomezcorta, Kristian Aquilina, Owase Jeelani, Olivia Carney, Sniya Sudhakar, Ulrike Loebel, Felice d′Árco, Kshitij Mankad, Darren Hargrave, Mette Jorgensen

المصدر: Neuro-Oncology. 24:i116-i117

مصطلحات موضوعية: Cancer Research, Oncology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ae017567c1dd33908ed3dbb755eae3ce
https://doi.org/10.1093/neuonc/noac079.422

المؤلفون: Davide Zecchin, Nicole Knoepfel, Anna Gluck, Mark Stevenson, Kate E. Lines, Satyamaanasa Polubothu, Noreen Muwanga-Nanyonjo, Sara Barberan-Martin, Fanourios Michailidis, Dale Bryant, Ulrike Loebel, Asuka Inoue, Robert Semple, Sarah Aylett, Rajesh V. Thakker, Veronica A. Kinsler

المصدر: Cancer Research. 82:851-851

مصطلحات موضوعية: Cancer Research, Oncology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::00a722de1cccdc6613582071d73d1cbf
https://doi.org/10.1158/1538-7445.am2022-851

المؤلفون: Harold G. Parkes, Torsten Baldeweg, David W. Carmichael, Thomas S. Jacques, Po-Wah So, Sara Lorio, Jan Sedlacik, Yao-Feng Li, Emma Dixon, J. Helen Cross, Ulrike Loebel, Sophie Adler, Roxana Gunny, Karin Shmueli

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Quantitative susceptibility mapping, Fluid-attenuated inversion recovery, Grey matter, Cortical dysplasia, medicine.disease, Luxol fast blue stain, Lesion, Epilepsy, medicine.anatomical_structure, medicine, medicine.symptom, business, Calcification

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6208621fe7b2e1dc28bddc22f6a7ba80
https://doi.org/10.1101/2020.09.15.20157123

المؤلفون: Omar Abdel-Mannan, Justin Penner, Jane Hassell, Ulrike Loebel, Sue Maillard, Mae Johnson, Ronit Pressler, Alasdair Bamford, Karyn Moshal, Yael Hacohen

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 93:A96.3-A97

مصطلحات موضوعية: Psychiatry and Mental health, Surgery, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ece3f313c3dcb9726d15bec6aadabb2b
https://doi.org/10.1136/jnnp-2022-abn.312

المؤلفون: Nazreen Kamarus Jaman (11774654), Preeya Rehsi (11774657), Robert H. Henderson (11774660), Ulrike Löbel (3325251), Kshitij Mankad (6749432), Stephanie Grunewald (1460986)

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, SRD5A3-CDG, steroid 5 alpha reductase deficiency, emerging phenotypic features, retinal dystrophy, congenital disorder of glycosylation, CDG

Relation: https://figshare.com/articles/dataset/DataSheet1_SRD5A3-CDG_Emerging_Phenotypic_Features_of_an_Ultrarare_CDG_Subtype_pdf/17103494

الاتاحة: https://doi.org/10.3389/fgene.2021.737094.s001