المؤلفون: Husain, R.A., Grimmel, M., Wagner, M., Hennings, J.C., Marx, C., Feichtinger, R.G., Saadi, A., Rostásy, K., Radelfahr, F., Bevot, A., Döbler-Neumann, M., Hartmann, H., Colleaux, L., Cordts, I., Kobeleva, X., Darvish, H., Bakhtiari, S., Kruer, M.C., Besse, A., Ng, A.C.H., Chiang, D., Bolduc, F., Tafakhori, A., Mane, S., Ghasemi Firouzabadi, S., Huebner, A.K., Buchert, R., Beck-Woedl, S., Müller, A.J., Laugwitz, L., Nägele, T., Wang, Z.Q., Strom, T.M., Sturm, M., Meitinger, T., Klockgether, T., Riess, O., Klopstock, T., Brandl, U., Hübner, C.A., Deschauer, M., Mayr, J.A., Bonnen, P.E., Krägeloh-Mann, I., Wortmann, S.B., Haack, T.B.

المصدر: Am. J. Hum. Genet. 107, 364-373 (2020)

مصطلحات موضوعية: Developmental Delay, Encephalopathy, Exome Sequencing, Hereditary Spastic Paraplegia, Hpdl, Leigh-like Syndrome, Mitochondrial Metabolism, Movement Disorder

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/32707086; info:eu-repo/semantics/altIdentifier/wos/WOS:000558491800016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59885; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59885
https://doi.org/10.1016/j.ajhg.2020.06.015

المؤلفون: Rattay, TW, Lindig, T, Baets, J, Smets, K, Deconinck, T, Söhn, AS, Hörtnagel, K, Eckstein, KN, Wiethoff, S, Reichbauer, J, Döbler-Neumann, M, Krägeloh-Mann, I, Auer-Grumbach, M, Plecko, B, Münchau, A, Wilken, B, Janauschek, M, Giese, AK, De Bleecker, Jan, Ortibus, E, Debyser, M, Lopez de Munain, A, Pujol, A, Bassi, MT, D'Angelo, MG, De Jonghe, P, Züchner, S, Bauer, P, Schöls, L, Schüle, R

المصدر: BRAIN ; ISSN: 0006-8950 ; ISSN: 1460-2156

مصطلحات موضوعية: Medicine and Health Sciences, SPG35, FAHN, FA2H, imaging biomarker, hereditary spastic paraplegia: HEREDITARY SPASTIC PARAPLEGIA, FATTY-ACID 2-HYDROXYLASE, IRON ACCUMULATION, COMPLICATED FORM, MUTATIONS, NEURODEGENERATION, PARAPARESIS, DISORDERS, DIAGNOSIS

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8618343; http://hdl.handle.net/1854/LU-8618343; http://dx.doi.org/10.1093/brain/awz102; https://biblio.ugent.be/publication/8618343/file/8618344

الاتاحة: https://biblio.ugent.be/publication/8618343
http://hdl.handle.net/1854/LU-8618343
https://doi.org/10.1093/brain/awz102
https://biblio.ugent.be/publication/8618343/file/8618344

المؤلفون: Mader, I, Döbler-Neumann, M, Küker, W, Stibler, H, Krägeloh-Mann, I

Relation: https://ora.ox.ac.uk/objects/uuid:fb220d2b-c168-4efd-9666-9115e5872f74; https://doi.org/10.1007/s003810100493

الاتاحة: https://doi.org/10.1007/s003810100493
https://ora.ox.ac.uk/objects/uuid:fb220d2b-c168-4efd-9666-9115e5872f74

المؤلفون: Gerhard Niemann, Klein R, Döbler-Neumann M, Scheel P

المصدر: Klinische Pädiatrie. 211:154-160

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Vascular disease, Ischemia, Infarction, medicine.disease, Surgery, Central nervous system disease, Lesion, Internal medicine, medicine.artery, Pediatrics, Perinatology and Child Health, Middle cerebral artery, Etiology, Cardiology, Medicine, medicine.symptom, business, Stroke

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::33bb7f3f748c030432a4ed6261f1bcdb
https://doi.org/10.1055/s-2008-1043778

المؤلفون: Schroeder, C., Riess, A., Bonin, M., Bauer, P., Riess, O., Döbler‐Neumann, M., Wieser, S., Moog, U., Tzschach, A.

المصدر: Clinical Genetics ; volume 86, issue 3, page 292-294 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.12263
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12263
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12263

المؤلفون: Moll, M., Schöning, M., Gölz, R., Döbler-Neumann, M., Arand, J., Krägeloh-Mann, I., Poets, C.

المصدر: Klinische Pädiatrie ; volume 223, issue 04, page 251-254 ; ISSN 0300-8630 1439-3824

الاتاحة: http://dx.doi.org/10.1055/s-0031-1275679
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0031-1275679.pdf

المؤلفون: Gburek-Augustat, J, Ruf, S, Döbler-Neumann, M, Horber, V, Krägeloh-Mann, I, Wolff, M

المصدر: Neuropediatrics ; volume 41, issue 02 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0030-1265592
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0030-1265592

المؤلفون: Dufke, A., Seidel, J., Schöning, M., Döbler-Neumann, M., Kelbova, C., Liehr, T., Beensen, V., Backsch, C., Klein-Vogler, U., Enders, H.

المصدر: Cytogenetic and Genome Research ; volume 91, issue 1-4, page 81-84 ; ISSN 1424-8581 1424-859X

الاتاحة: http://dx.doi.org/10.1159/000056823
https://www.karger.com/Article/Pdf/56823

المؤلفون: Schroeder, C., Riess, A., Bonin, M., Bauer, P., Riess, O., Döbler‐Neumann, M., Wieser, S., Moog, U., Tzschach, A.

المصدر: Clinical Genetics; Sep2014, Vol. 86 Issue 3, p292-294, 3p, 2 Color Photographs

مصطلحات موضوعية: LIPODYSTROPHY, PULMONARY stenosis, AXENFELD-Rieger syndrome, SHORT stature, JOINT hypermobility, HERNIA