نتائج البحث

1

دورية أكاديمية

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease

المؤلفون: F. Bruni, I. Di Meo, E. Bellacchio, B. D. Webb, R. Mcfarland, Z. M. A. Chrzanowska-Lightowlers, L. He, E. Skorupa, I. Moroni, A. Ardissone, A. Walczak, H. Tyynismaa, P. Isohanni, H. Mandel, H. Prokisch, T. Haack, P. E. Bonnen, E. Bertini, E. Pronicka, D. Ghezzi, R. W. Taylor, D. Diodato

المساهمون: F. Bruni, I. Di Meo, E. Bellacchio, B.D. Webb, R. Mcfarland, Z.M.A. Chrzanowska-Lightowler, L. He, E. Skorupa, I. Moroni, A. Ardissone, A. Walczak, H. Tyynismaa, P. Isohanni, H. Mandel, H. Prokisch, T. Haack, P.E. Bonnen, E. Bertini, E. Pronicka, D. Ghezzi, R.W. Taylor, D. Diodato

مصطلحات موضوعية: Cardioencephalomyopathy, Mitochondrial disorder, OXPHOS, VARS2, Genetic, Genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29314548; info:eu-repo/semantics/altIdentifier/wos/WOS:000426727800009; volume:39; issue:4; firstpage:563; lastpage:578; numberofpages:16; journal:HUMAN MUTATION; http://hdl.handle.net/2434/552120Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041668846

الإتاحة: https://doi.org/10.1002/humu.23398Test
http://hdl.handle.net/2434/552120Test

View record in BASE

2

Genome sequencing of HBOC patients in routine diagnostics

المؤلفون: D Witt, T Haack, U Faust, A Stäbler, S Gauß, O Kelemen, K Bosse, O Rieß, M Sturm, C Schröder

المصدر: 64. Kongress der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe e. V..

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4c7aa3ad88c9d8c8f9badece132aea82Test
https://doi.org/10.1055/s-0042-1757108Test

3

Detektionsrate der Trio-Exom-Sequenzierung bei Schwangerschaften mit komplexen Fehlbildungssyndromen und unauffälligen genetischen Vorbefunden

المؤلفون: KO Kagan, T Haack, M Hoopmann, O Riess, A Dufke

المصدر: 64. Kongress der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe e. V..

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ecbc7d87ed3a61727146a9dbbceceb6eTest
https://doi.org/10.1055/s-0042-1756889Test

4

An Empirical Evaluation of Turbulence Closure Models in the Coastal Ocean

المؤلفون: I. B. Savelyev, P. J. Martin, Y. Fan, D. K. Savidge, R. K. Shearman, T. Haack, T. de Paolo, E. J. Terrill, Q. Wang

المصدر: Journal of Geophysical Research: Oceans. 127

مصطلحات موضوعية: Geophysics, Space and Planetary Science, Geochemistry and Petrology, Earth and Planetary Sciences (miscellaneous), Oceanography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b39b2a3c322a057ceddd11363b0703c4Test
https://doi.org/10.1029/2021jc017588Test

5

408 Hyperkinetic and hypokinetic movement disorders – in pediatric clinical practice

المؤلفون: U. Ahting, B Jernej, T Haack, Ivan Lehman, V Duranović, Michèl A.A.P. Willemsen, Holger Prokisch, Branka Bunoza, D Chudy, Nina Barišić

المصدر: Abstracts.

مصطلحات موضوعية: Clinical Practice, medicine.medical_specialty, Physical medicine and rehabilitation, Movement disorders, business.industry, medicine, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f7cabc123ad65332814c2ed48fa6f0aeTest
https://doi.org/10.1136/archdischild-2021-europaediatrics.408Test

6

P.380

المؤلفون: S. Donkervoort, P. Mohassel, L. Laugwitz, E. Kamsteeg, K. Chao, C. Verschuuren-Bemelmans, V. Horber, J. Fock, N. Voermans, Y. Hu, M. Snyder, S. Iannaccone, H. Lochmüller, T. Haack, A. Foley, R. Horvath, C. Bönnemann

المصدر: Neuromuscular Disorders. 29:S192

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c78e2bb5324ea0fb4fa5b576033a650aTest
https://doi.org/10.1016/j.nmd.2019.06.542Test

7

Bedarf an Frühen Hilfen: Epidemiologie

المؤلفون: R. von Kries, T. Haack

المصدر: Frühe Hilfen in der Pädiatrie ISBN: 9783662492611

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::11bfedfea5b9ef610d9977c9420f1fdcTest
https://doi.org/10.1007/978-3-662-49262-8_4Test

8

Ketaminrazemat bei 'Fast-track'-Anästhesie

المؤلفون: E. Mathejka, T. Haack, W. Wilhelm, E.A. Lux, K. Hinrichs

المصدر: Der Anaesthesist. 58:1027-1034

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Anesthesiology and Pain Medicine, business.industry, Medicine, General Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e781bc63a0a32f0ea26ed15afbfd2209Test
https://doi.org/10.1007/s00101-009-1607-zTest

9

Diagnostic Difficulties in a Child with Tay-Sachs Disease

المؤلفون: S. Burdach, Christine Makowski, T. Haack, J. Baumkötter

المصدر: Neuropediatrics. 45

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Tay-Sachs disease, medicine, Neurology (clinical), General Medicine, medicine.disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b9c511f053a51f6f0724286f1d79de18Test
https://doi.org/10.1055/s-0034-1390633Test

10

دورية أكاديمية

Phthalazine PDE IV inhibitors. Conformational study of some 6-methoxy-1,4-disubstituted derivatives

المؤلفون: T. HAACK, R. FATTORI, M. NAPOLETANO, F. PELLACINI, G. FRONZA, RAFFAINI, GIUSEPPINA, GANAZZOLI, FABIO

المساهمون: T., Haack, R., Fattori, M., Napoletano, F., Pellacini, G., Fronza, Raffaini, Giuseppina, Ganazzoli, Fabio

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000230151200008; volume:13; firstpage:4425; lastpage:4433; numberofpages:8; journal:BIOORGANIC & MEDICINAL CHEMISTRY; http://hdl.handle.net/11311/240027Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-20444465664

الإتاحة: http://hdl.handle.net/11311/240027Test

View record in BASE

تنقيح النتائج