Výsledky vyhledávání

The global pandemic and changes in women's reproductive health: an observational study

Autor: Haile, L, van de Roemer, N, Gemzell-Danielsson, K, Capo, JP, Lasa, IL, Vannuccini, S, Koch, MC, Hildebrandt, T, Calaf, J

Publikováno v: EUROPEAN JOURNAL OF CONTRACEPTION AND REPRODUCTIVE HEALTH CARE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Objective The COVID-19 global pandemic has led to the death of millions around the world and impacted the overall health of many people. In this article we aim to compare reproductive health indicators in the first 6 months of 2020 to the prior year,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::370cf5c993319694908132abd8f643db
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=6243

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Facioscapulohumeral muscular dystrophy

Autor: Wolfgang Müller-Felber, Butz M, van der Maarel Sm, Lemmers Rj, Koch Mc, Herbert Schreiber

Publikováno v: Journal of Neurology. 250:932-937

Facioscapulohumeral muscular dystrophy (FSHD) is associated with a decreased number of D4Z4 repeats on chromosome 4q35. Diagnostic difficulties arise from atypical clinical presentations and from an overlap in D4Z4 numbers between controls and FSHD i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0d745ede42fa3a0a05bdcd273b91aec2
https://doi.org/10.1007/s00415-003-1116-y

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The clinical and genetic correlates of MRI findings in myotonic dystrophy

Autor: Maxwell S. Damian, Georg Bachmann, Koch Mc, S. Stöppler, B. Fach, G. Schilling

Publikováno v: Neuroradiology. 38:629-635

Amplification of an unstable CTG trinucleotide repeat sequence in a protein kinase gene on chromosome 19 has recently been recognised as the molecular basis of myotonic dystrophy (DM), a multisystem disorder with a wide spectrum of muscular and extra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f81ee5f9c9e09990688ee8f17c8e1d15
https://doi.org/10.1007/s002340050322

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Brain disease and molecular analysis in myotonic dystrophy

Autor: Bachmann G, S. Stöppler, Maxwell S. Damian, Dorndorf W, Koch Mc, G. Schilling

Publikováno v: NeuroReport. 5:2549-2552

Abnormal amplification of a CTG repeat on chromosome 19 is the molecular basis of myotonic dystrophy (DM). Expansion of the repeat has been correlated with severity of several clinical features of the disease. We performed extensive cognitive testing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fea8084062377a8db1dc18c1cf02ab6b
https://doi.org/10.1097/00001756-199412000-00036

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