Výsledky vyhledávání - "in-frame variant"

Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family

Autor: Sareh Hosseinpour, Ali Reza Tavasoli, Masoud Garshasbi, Ehsan Razmara, Erfan Heidari

Publikováno v: Annals of human geneticsREFERENCES. 84(4)

The human dopamine transporter (hDAT) participates in dopamine homeostasis by clearing dopamine from the extracellular space using secondary active transport. Dysregulation of hDAT has been reported to be associated with different neuropsychiatric di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee26e6784ceffae98b2f3d90941e9c8
https://pubmed.ncbi.nlm.nih.gov/32077500

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Akademický článek

Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date

Autor: Guofu Zhang, Yuepeng Hu, Qi Yang, Na Pu, Gang Li, Jingzhu Zhang, Zhihui Tong, Emmanuelle Masson, David N. Cooper, Jian-Min Chen, Weiqin Li

Publikováno v: Lipids in Health and Disease, Vol 22, Iss 1, Pp 1-18 (2023)

Abstract Background Lipoprotein lipase (LPL) is the rate-limiting enzyme for triglyceride hydrolysis. Homozygous or compound heterozygous LPL variants cause autosomal recessive familial chylomicronemia syndrome (FCS), whereas simple heterozygous LPL

Externí odkaz: https://doaj.org/article/6e0b2acecd7045c7b7befd71c176c5b1

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Dissertation/ Thesis

Rám přívěsu Variant 350 pro přepravu kabelových cívek

Autor: Weingärtner, Jan

This diploma thesis deals with the solution of the trailer frame Variant 350 for transport of cable reels. The aim of this work is to drive a dynamic simulation of a cable lift generated by the track and in specific places to find this track burdenso

Externí odkaz: http://www.nusl.cz/ntk/nusl-229795

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Dissertation/ Thesis

Rám přívěsu Variant pro přepravu kabelových cívek

Autor: Buchta, Vladislav

Thesis deals with the truck frame VARIANT 252. The main task is to analyze weighting states, setting the values for weigting states. Strength control of the frame by using the Finite Element Method (FEM). And each subsequent frame adjustments based o

Externí odkaz: http://www.nusl.cz/ntk/nusl-229240

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Dissertation/ Thesis

Rám přívěsu Variant 200 pro přepravu kabelových cívek

Autor: Blažek, Jaroslav

The aim of this thesis is an analysis of the construction of a cable trailer VARIANT 200. For the calculation of load states was used a multi body system in program MSC.ADAMS. The results from these calculations were used as lifting conditions for st

Externí odkaz: http://www.nusl.cz/ntk/nusl-229427

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Akademický článek

In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency

Autor: Wen-Juan Xiao, Wen-Bin He, Ya-Xin Zhang, Lan-Lan Meng, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan, Juan Du

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

Premature ovarian insufficiency (POI) is a severe clinical syndrome defined by ovarian dysfunction in women less than 40 years old who generally manifest with infertility, menstrual disturbance, elevated gonadotrophins, and low estradiol levels. STAG

Externí odkaz: https://doaj.org/article/14666d3c2a36409eaa4a77e8f40e3690

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