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Suchen Sie Fachveröffentlichungen anhand ihres Titels oder Autors und präzisieren Sie Ihre Suche danach anhand von Verlagen, Jahrgängen usw.

Aktuelle Fachpublikationen

Lessons from a pair of siblings with BPAN

Lessons from a pair of siblings with BPAN European Journal of Human Genetics 24, 1095 (July 2016). doi:10.1038/ejhg.2015.274 Authors: Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola, Annette Vertino-Bell, G Bradley Schaefer & Michael C Kruer mehr

IRDiRC-recommended

IRDiRC-recommended European Journal of Human Genetics 24, 955 (July 2016). doi:10.1038/ejhg.2015.236 Author: Ségolène Aymé mehr

Chewing the fat about death with the neighbours

Chewing the fat about death with the neighbours Cell Death and Differentiation 23, 1097 (July 2016). doi:10.1038/cdd.2016.49 Author: W B Derry mehr

The Least Likely Man: Marshall Nirenberg and the Discovery of the Genetic Code

The Least Likely Man: Marshall Nirenberg and the Discovery of the Genetic Code European Journal of Human Genetics 24, 1094 (July 2016). doi:10.1038/ejhg.2015.263 Author: Rachel A Peat mehr

Genome-wide association studies identify genetic loci for low von Willebrand factor levels

Genome-wide association studies identify genetic loci for low von Willebrand factor levels European Journal of Human Genetics 24, 1096 (July 2016). doi:10.1038/ejhg.2016.21 Authors: Janine van Loon, Abbas Dehghan, Tang Weihong, Stella Trompet, Wendy L McArdle, Folkert ... mehr

Alle Fachpublikationen

Lessons from a pair of siblings with BPAN

Lessons from a pair of siblings with BPAN European Journal of Human Genetics 24, 1095 (July 2016). doi:10.1038/ejhg.2015.274 Authors: Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola, Annette Vertino-Bell, G Bradley Schaefer & Michael C Kruer mehr

IRDiRC-recommended

IRDiRC-recommended European Journal of Human Genetics 24, 955 (July 2016). doi:10.1038/ejhg.2015.236 Author: Ségolène Aymé mehr

The Least Likely Man: Marshall Nirenberg and the Discovery of the Genetic Code

The Least Likely Man: Marshall Nirenberg and the Discovery of the Genetic Code European Journal of Human Genetics 24, 1094 (July 2016). doi:10.1038/ejhg.2015.263 Author: Rachel A Peat mehr

Genome-wide association studies identify genetic loci for low von Willebrand factor levels

Genome-wide association studies identify genetic loci for low von Willebrand factor levels European Journal of Human Genetics 24, 1096 (July 2016). doi:10.1038/ejhg.2016.21 Authors: Janine van Loon, Abbas Dehghan, Tang Weihong, Stella Trompet, Wendy L McArdle, Folkert ... mehr

International Charter of principles for sharing bio-specimens and data

International Charter of principles for sharing bio-specimens and data European Journal of Human Genetics 24, 1096 (July 2016). doi:10.1038/ejhg.2015.237 Authors: Deborah Mascalzoni, Edward S Dove, Yaffa Rubinstein, Hugh JS Dawkins, Anna Kole, Pauline McCormack, Simon ... mehr

Alle Fachpublikationen zu Biotechnologie

MCDA Twins with Discordant Malformations: Submicroscopic Chromosomal Anomalies Detected by Chromosomal Microarray Analysis and Clinical Outcomes

Abstract Objective To evaluate whether discrepant copy number variations (CNVs) contribute to the risk for discordant congenital anomalies in monochorionic diamniotic (MCDA) twins. Methods We conducted a parallel testing using both G‐banding for standard karyotyping and chromoso ... mehr

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases

Abstract Objective To describe macroscopic and microscopic anomalies present in fetuses carrying HNF1B mutation, their frequency, genotype/phenotype correlations. Methods Clinical data, ultrasound findings, genetic studies and autopsy reports of 20 fetal autopsies were analysed. ... mehr

Detection of a case of Chronic Myeloid Leukemia with deletions at the t(9;22) translocation breakpoints by a genome‐wide non‐invasive prenatal test

Abstract Objective Non‐invasive prenatal tests (NIPT) interrogating the complete genome are able to detect not only fetal trisomy 13, 18 or 21, but additionally provide information on other (sub)chromosomal aberrations, that can be fetal or maternal in origin. We demonstrate that in a ... mehr

Utility of Fetal Magnetic Resonance Imaging in Assessing the Fetus with Cardiac Malposition

Abstract Objective Abnormal cardiac axis and/or malposition prompts evaluation of congenital heart disease (CHD), however etiology may be difficult to clarify using obstetrical ultrasound (US) or fetal echocardiography (echo) alone. We aimed to use fetal magnetic resonance imaging (MRI ... mehr

Sonoembryology of the fetal posterior fossa at 11 + 3 to 13 + 6 gestational weeks on three‐dimensional transvaginal ultrasound

Abstract Objective To describe the sonographic appearance and temporal changes of the structures of the posterior cranial fossa in fetuses at a crown‐rump length (CRL) between 45 to 84 mm in transvaginal acquired three‐dimensional volume blocks. Methods This was a prospective, c ... mehr

Alle Fachpublikationen zu Diagnostik

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 96, 600 (June 2016). doi:10.1038/labinvest.2016.59 mehr

ApoA1 and ApoA1-specific self-antibodies in cardiovascular disease

ApoA1 and ApoA1-specific self-antibodies in cardiovascular disease Laboratory Investigation advance online publication, May 16 2016. doi:10.1038/labinvest.2016.56 Authors: Dimitry A Chistiakov, Alexander N Orekhov & Yuri V Bobryshev mehr

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 96, 494 (May 2016). doi:10.1038/labinvest.2016.47 mehr

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 96, 376 (April 2016). doi:10.1038/labinvest.2016.41 mehr

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 96, 262 (March 2016). doi:10.1038/labinvest.2016.29 mehr

Alle Fachpublikationen zu Labortechnik

Atomoxetine Enhances Connectivity of Prefrontal Networks in Parkinson|[rsquo]|s Disease

Atomoxetine Enhances Connectivity of Prefrontal Networks in Parkinson’s Disease Neuropsychopharmacology 41, 2188 (July 2016). doi:10.1038/npp.2016.46 Authors: Robin J Borchert, Timothy Rittman, Luca Passamonti, Zheng Ye, Saber Sami, Simon P Jones, Cristina Nombela, Pat ... mehr

Ethylene vinyl acetate (EVA) as a new drug carrier for 3D printed medical drug delivery devices

Publication date: 30 July 2016 Source:European Journal of Pharmaceutical Sciences, Volume 90 Author(s): Natalja Genina, Jenny Holländer, Harri Jukarainen, Ermei Mäkilä, Jarno Salonen, Niklas Sandler The main purpose of this work was to investigate the printability of diffe ... mehr

Analysis of large-scale tablet coating: Modeling, simulation and experiments

Publication date: 30 July 2016 Source:European Journal of Pharmaceutical Sciences, Volume 90 Author(s): P. Boehling, G. Toschkoff, K. Knop, P. Kleinebudde, S. Just, A. Funke, H. Rehbaum, J.G. Khinast This work concerns a tablet coating process in an industrial-scale dr ... mehr

Inclusion complexation with β-cyclodextrin derivatives alters photodynamic activity and biodistribution of meta-tetra(hydroxyphenyl)chlorin

Publication date: Available online 16 June 2016 Source:European Journal of Pharmaceutical Sciences Author(s): Igor Yankovsky, Estelle Bastien, Ilya Yakovets, Ivan Khludeyev, Henri-Pierre Lassalle, Susanna Gräfe, Lina Bezdetnaya, Vladimir Zorin Application of meta-tetra ... mehr

Cytotoxicity assessment of lipid-based self-emulsifying drug delivery system with Caco-2 cell model: Cremophor EL as the surfactant

Publication date: Available online 17 June 2016 Source:European Journal of Pharmaceutical Sciences Author(s): Pengli Bu, Silpa Narayanan, Damon Dalrymple, Xingguo Cheng, Abu T.M. Serajuddin Purpose Caco-2 cells are used extensively for in vitro prediction of intestinal drug ... mehr

Alle Fachpublikationen zu Pharma

Advanced tests for early and accurate diagnosis of Creutzfeldt–Jakob disease

Nature Reviews Neurology. doi:10.1038/nrneurol.2016.92 Author: Gianluigi Zanusso, Salvatore Monaco, Maurizio Pocchiari & Byron Caughey mehr

Bilingual children's long‐term outcomes in English as a second language: language environment factors shape individual differences in catching up with monolinguals

Abstract Bilingual children experience more variation in their language environment than monolingual children and this impacts their rate of language development with respect to monolinguals. How long it takes for bilingual children learning English as a second language (L2) to display s ... mehr

Parent‐ and child‐driven effects during the transition to adolescence: a longitudinal, genetic analysis of the home environment

Abstract Theoretical models of child development typically consider the home environment as a product of bidirectional effects, with parent‐ and child‐driven processes operating interdependently. However, the developmental structure of these processes during the transition from childhood ... mehr

Neuroendocrine Regulation of Anxiety: Beyond the HPA Axis

Abstract The central nervous system regulates and responds to endocrine signals, and this reciprocal relationship determines emotional processing and behavioural anxiety. While the hypothalamic‐pituitary‐adrenal axis (HPA) remains the best‐characterised system for this relationship, othe ... mehr

An optogenetic mouse model of rett syndrome targeting on catecholaminergic neurons

Rett syndrome (RTT) is a neurodevelopmental disorder affecting multiple functions, including the norepinephrine (NE) system. In the CNS, NE is produced mostly by neurons in the locus coeruleus (LC), where defects in intrinsic neuronal properties, NE biosynthetic enzymes, neuronal CO2 sensit ... mehr

Alle Fachpublikationen zu Medizin
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