نتایج جستجو برای: 2،2

تعداد نتایج: 211922  

2015
Lorena Härdle Malte Bachmann Franziska Bollmann Andrea Pautz Tobias Schmid Wolfgang Eberhardt Hartmut Kleinert Josef Pfeilschifter Heiko Mühl

These errors have now been corrected in the HTML; the PDF version of the paper was correct from the time of publication. This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not include...

Journal: :Journal of medical genetics 1977
F Mollica G Sorge L Pavone

A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.

2012
Pascal Gelebart Raymond Lai

2010

Four randomised controlled trials (RCTs) and one RCT metaanalysis are featured in the Journal this month. The latter is a review of trials of newer-generation antidepressants and cognitive–behavioural therapy (CBT) for adolescent depression (Dubicka et al, pp. 433–440). In an area of clinical practice plagued by controversy, the authors of this review were able to contribute the finding that ad...

Journal: :Clinical dysmorphology 2004
Johannes H Merks Nicolaas Ceelie Huib N Caron Raoul C Hennekam

We report a family with co-occurring disorders including neuroblastoma in the first child conceived by in-vitro fertilization with history of sodium valproate use by the mother during pregnancy and mosaic trisomy 22 in the third child. We discuss the possibility of an association between the disorders but conclude that no firm aetiological connection can be established between the different dis...

2008
Kimberlie Dean

Three papers in the Journal this month consider issues related to measuring, understanding and treating mental ill health in childhood. Baron-Cohen et al (pp. 500–509) undertook a study to establish the prevalence of autism-spectrum conditions in Cambridgeshire using two case ascertainment methods. First, a survey of individuals on the Special Educational Needs register and second, a screening ...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

2016
M.Ibáñez E.Muñoz

Department of Building and Industrial Production Engineering, University CEU Cardenal Herrera Avda.Seminario s/n, 46113, Moncada, Valencia, Spain Email: [email protected], [email protected], [email protected], [email protected] (*corresponding author), web page: http://www.uchceu.es Departamento de Ingeniería Mecánica y de Materiales, Universidad Politécnica de Vale...

Journal: :Journal of medical genetics 1995
V P Prasher E Roberts A Norman A C Butler V H Krishnan D J McMullan

A case of a 27 year old male with a duplication of part of the long arm of chromosome 22 (22q11.2-q13.1) together with a pericentric inversion of the same chromosome is reported. Particular phenotypic features of note include absence of speech, persistent self-injury, lack of daily living skills, colobomata, and very poor vision. Similarities between this case and other case reports of duplicat...

2012
Hong-Sheng Chen Tai-Ping Sun

Nuclear matrix protein 22 (NMP22) is a FDA approved biomarker for bladder cancer. The objective of this study is to develop a simple NMP22 immumosensor (NMP22-IMS) for accurate measurement of NMP22. The NMP22-IMS was constructed with NMP22 antibody immobilized on screen-printed carbon electrodes. The construction procedures and antibody immobilization are simple. Results showed that the NMP22-I...

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