Zobrazeno 1 - 10
of 59
pro vyhledávání: '"35"'
Autor:
Jean-Michel Vallat, Nazha Birouk, M. Gugenheim, Alexis Brice, S. Tardieu, J P Louboutin, E Plassart, Riadh Gouider, Yves Agid, Eric LeGuern, H. Rouger, Pierre Bouche
Publikováno v:
Human Mutation. 10:443-450
Charcot-Marie-Tooth disease can be inherited either autosomal dominantly or recessively or linked to the X chromosome. X-linked dominant Charcot-Marie-Tooth disease (CMTX) is a sensorimotor peripheral neuropathy in which males have usually more sever
Publikováno v:
Human Mutation. 18:459-459
Thirty two mutations have been found in 35 unrelated patients of European origin with Fabry disease, including 8 females. Twenty of the mutations are novel and comprise of 13 missense: H46Y, W47G, R49P, C94S, F113S, G258R, P259R, Q279H, Q280H, R363H,
Autor:
Navapon Techakriengkrai, Napawan Bunpapong, Supanat Boonyapisitsopa, Kitikhun Udom, Kamonpan Charoenkul, Ekkapat Chamsai, Waleemas Jairak, Alongkorn Amonsin
Publikováno v:
Transboundary and Emerging Diseases
Coronavirus disease of 2019 (COVID‐19) caused by severe acute respiratory syndrome virus type 2 (SARS‐CoV‐2) is an emerging severe acute respiratory disease affecting global human health. In this study, a large‐scale serological survey of ant
Autor:
Graciele Daiana Funck, Ângela Maria Fiorentini, Louise Haubert, Carla Pohl Sehn, Vera Maria Klajn, Juliana de Lima Marques, Wladimir Padilha da Silva, Guilherme da Silva Dannenberg, Claudio Eduardo dos Santos Cruxen
Publikováno v:
Journal of Food Processing and Preservation. 43
The aim of this study was to evaluate the probiotic potential and the viability in fermented oat dairy beverage of Lactobacillus curvatus isolate P99. Probiotic potential was assessed through the survival in simulated gastrointestinal tract condition
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2015 (2015)
BioMed Research International, Vol 2015 (2015)
Since H9N2 avian influenza virus (AIV) was first isolated in Guangdong province of China, the virus has been circulating in chicken flocks in mainland China. However, a systematic phylogenetic analysis of H9N2 AIV from chickens in Shandong of China h
Autor:
Thomas L. Winder, Vilma-Lotta Lehtokari, Nigel F. Clarke, Kathryn N. North, K. Kiiski, Nigel G. Laing, Pauliina Repo, Alan H. Beggs, Kati Donner, Sarah A. Sandaradura, Carol J Saunders, Jennifer A. Frey, Jocelyn Laporte, Norma B. Romero, Carina Wallgren-Pettersson, Peter G. Barth, M. Marttila, Katarina Pelin, Johan T. den Dunnen
Publikováno v:
Human mutation, 35(12), 1418-1426. Wiley-Liss Inc.
Human Mutation, 35(12), 1418-1426
Human Mutation, 35(12), 1418-1426
A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenoty
Autor:
Alexander Hoischen, Heiko Reutter, Hartmut Engels, Bregje W.M. van Bon, Paige E. Cooper, Gijs van Haaften, Joachim Woelfle, Colin G. Nichols, Dorothy K. Grange
Publikováno v:
Human Mutation, 35, 7, pp. 809-13
Human Mutation, 35, 809-13
Human Mutation, 35, 809-13
Item does not contain fulltext ATP-sensitive potassium (KATP ) channels, composed of inward-rectifying potassium channel subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor (SUR1 and SUR2, enco
Autor:
E.A. Black-Ziegelbein, S.B. Shibata, Nicole C. Meyer, Hela Azaiez, Patrick L. M. Huygen, Aiden Eliot Shearer, Kevin T. Booth, Richard J.H. Smith, Fengxiao Bu, Diana L. Kolbe
Publikováno v:
Human Mutation, 35, 7, pp. 819-23
Human Mutation, 35, 819-23
Human Mutation, 35, 819-23
Item does not contain fulltext Hereditary hearing loss is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segrega
Publikováno v:
ISRN Soil Science. 2012:1-13
The present study has been conducted to explore the possibility of enrichment of vermicompost with microbial inoculants (i.e., biofertilizer organisms), Azospirillum brasilense and Rhizobium leguminosarum, optimization of inoculum level, and time of
Autor:
Rosamma Philip, Subramanian Selven
Publikováno v:
Aquaculture Research. 44:747-759
The effect of ambient salinity on the haemolymph variables of Fenneropenaeus indicus and its susceptibility to Vibrio harveyi infection under salinity stress has been studied. Adult shrimps were acclimated to 5‰ (hypo osmotic), 25‰ (iso osmotic)