نتایج جستجو برای: robinow syndrome

تعداد نتایج: 621936  

Journal: :Physical review. B, Condensed matter 1993
Zheng Hess Benner Vardeny Baker

We studied the electronic energies and phonon frequencies of polydiacetylene 4-BCMU thin films at high pressures up to 50 kbar using Raman scattering under preresonant and resonant conditions. Pressure-induced changes in the resonant Raman scattering (RRS) include (1) hardening of the most strongly coupled phonon frequencies, (2) dispersion of the RRS frequencies with the laser excitation coL, ...

Journal: :American journal of medical genetics. Part A 2007
Juliana Forte Mazzeu Eliete Pardono Angela M Vianna-Morgante Antônio Richieri-Costa Chong Ae Kim Décio Brunoni Lúcia Martelli Carlos Eugênio F de Andrade Guilherme Colin Paulo A Otto

Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and genital anomalies that can be inherited in an autosomal dominant or recessive mode. We characterized these two variants clinically, with the aim of establishing clinical criteria to enhance the differential diagnosis between them or other similar conditions. The freque...

2017
Rhona Mijumbi-Deve Nelson K. Sewankambo

BACKGROUND Although proven feasible, rapid response services (RRSs) to support urgent decision and policymaking are still a fairly new and innovative strategy in several health systems, more especially in low-income countries. There are several information gaps about these RRSs that exist including the factors that make them work in different contexts and in addition what affects their uptake b...

Journal: :The Analyst 2012
Xiao Bei Fu Fei Qu Nian Bing Li Hong Qun Luo

The binding of lead(II) ions with unusually high affinity to a thrombin binding aptamer resulted in an enhancement of resonance Rayleigh scattering (RRS). A simple, sensitive, and selective assay for the direct determination of trace amounts of Pb(2+) on the basis of RRS has been proposed.

Journal: :Food chemistry 2014
Yanjun Zhang Wei Liu Chengmei Liu Shunjing Luo Ti Li Yunfei Liu Di Wu Yanna Zuo

Native rice starch (NRS, amylose/28.9%) was gelatinized by improved extrusion cooking technology (IECT) and retrograded (RRS) after low temperature storage (4 °C). The retrogradation behaviour of RRS was changed to low retrogradation percentage and low retrogradation rate. The retrogradation resulted in a high compact morphology. The melt enthalpy change and percentage of retrogradation of RRS ...

Journal: :Journal of neurology, neurosurgery, and psychiatry 2001
M A Grados B S Slomine J P Gerring R Vasa N Bryan M B Denckla

OBJECTIVES The utility of a depth of lesion classification using an SPGR MRI sequence in children with moderate to severe traumatic brain injury (TBI) was examined. Clinical and depth of lesion classification measures of TBI severity were used to predict neurological and functional outcome after TBI. METHODS One hundred and six children, aged 4 to 19, with moderate to severe TBI admitted to a...

Journal: :Molecular and cellular biology 1994
D A Sinclair G D Kornfeld I W Dawes

Though widely recognized in higher eukaryotes, the regulation of Saccharomyces cerevisiae genes transcribed by RNA polymerase II by proteins that bind within the coding sequence remains largely speculative. We have shown for the LPD1 gene, encoding lipoamide dehydrogenase, that the coding sequence between +13 and +469 activated gene expression of an LPD1::lacZ fusion by up to sixfold in the pre...

Journal: :Human molecular genetics 2005
Ying Chen William P Bellamy Miguel C Seabra Mark C Field Bassam R Ali

Correct folding of nascent polypeptide chains within the ER is critical for function, assembly into multi-subunit complexes and trafficking through the exocytic pathway for secretory and cell surface proteins. This process is rather inefficient, and a substantial proportion of nascent polypeptides is rejected by an ER quality control system and targeted for degradation. In some cases, only a mi...

2012
Honghong Wu Yu Zhang Changqing Zhu Xiao Xiao Xinghu Zhou Sheng Xu Wenbiao Shen Ming Huang

With the widespread use of Roundup Ready soya (event 40-3-2) (RRS), the traceability of transgenic components, especially protein residues, in different soya-related foodstuffs has become an important issue. In this report, transgenic components in commercial soya (including RRS) protein concentrates were firstly detected by using polymerase chain reaction (PCR) and western blot. The results il...

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