نتایج جستجو برای: chromosome anomaly

تعداد نتایج: 157750  

2004
P. Leiderer

We have investigated the adsorption of 4He onto a quench-condensed H2 film by means of surface state electrons. Oscillations in the surface state electron conductivity clearly reveal the layerwise character of the adsorption. At temperatures below 2K we have observed an anomaly in the conductivity around the completion of the first monolayer. This new feature is interpreted as an indication of ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1999
G E Volovik

There are several classes of homogeneous Fermi systems that are characterized by the topology of the energy spectrum of fermionic quasiparticles: (i) gapless systems with a Fermi surface, (ii) systems with a gap in their spectrum, (iii) gapless systems with topologically stable point nodes (Fermi points), and (iv) gapless systems with topologically unstable lines of nodes (Fermi lines). Superfl...

Journal: :Journal of Biomedicine and Biotechnology 2001
Hatem El-Shanti

Genetic disorders are diseases in which genetic factors play an important role in their etiology. They are classified into chromosomal abnormalities, monogenic and multifactorial disorders. While chromosomal abnormalities and monogenic disorders are purely genetic in nature, multifactorial disorders are produced by the interaction between environmental and genetic factors. Although most genetic...

Journal: :Nature communications 2016
Jiawei Ruan Shao-Kai Jian Hong Yao Haijun Zhang Shou-Cheng Zhang Dingyu Xing

Ideal Weyl semimetals with all Weyl nodes exactly at the Fermi level and no coexisting trivial Fermi surfaces in the bulk, similar to graphene, could feature deep physics such as exotic transport phenomena induced by the chiral anomaly. Here, we show that HgTe and half-Heusler compounds, under a broad range of in-plane compressive strain, could be materials in nature realizing ideal Weyl semime...

2008
R. N. Mohapatra

We show that an intermediate scale supersymmetric left-right seesaw scenario with automatic R-parity conservation can cure the problem of tachyonic slepton masses that arises when supersymmetry is broken by anomaly mediation, while preserving ultraviolet insensitivity. The reason for this is the existence of light B − L = 2 higgses with yukawa couplings to the charged leptons. We find these the...

Journal: :Journal of medical genetics 1993
G Valkova M Stefanova

Two cases of 14q proximal partial trisomy in sisters from the same family are reported. Clinical features included craniofacial dysmorphism, skin depigmentation, slight anomalies of the limbs, muscular hypertonia, and physical and mental retardation. The third sister had an abnormal phenotype, different from that of her sibs, and proved to be a carrier of a balanced translocation (2;14)(q36;q21...

Journal: :Nano letters 2016
Gang Qiu Yuchen Du Adam Charnas Hong Zhou Shengyu Jin Zhe Luo Dmitry Y Zemlyanov Xianfan Xu Gary J Cheng Peide D Ye

Transition metal pentatelluride ZrTe5 is a versatile material in condensed-matter physics and has been intensively studied since the 1980s. The most fascinating feature of ZrTe5 is that it is a 3D Dirac semimetal which has linear energy dispersion in all three dimensions in momentum space. Structure-wise, ZrTe5 is a layered material held together by weak interlayer van der Waals force. The comb...

Journal: :Blood 1992
A Cuneo J L Michaux A Ferrant L Van Hove A Bosly M Stul P Dal Cin E Vandenberghe J J Cassiman M Negrini

Cytogenetic, biomolecular, and clinicopathologic features were retrospectively studied in 34 adult patients with acute myelogenous leukemia expressing one or more of the following lymphoid-associated markers (LMs): CD7, CD2, CD10, CD19, CD22, TdT. Six patients showed 11q23 rearrangements (group I); three patients had the classic Ph chromosome (group II); 15 patients had aberrations of the myelo...

Journal: :Journal of medical genetics 1970
A Sommer J L Grosfeld

One of the more common chromosomal abnormalities which has been well delineated and documented is trisomy of an E group chromosome. Since the first report of this syndrome by Edwards et al. (1960) and also by Patau et al. (1960), data on this anomaly have accumulated rapidly, and most cases are diagnosed on clinical features-only to be confirmed by chromosome analysis. The pitfalls in diagnosis...

Journal: :iranian journal of otorhinolaryngology 0
shahin abdollahi fakhim department of otorhinolaryngology, tabriz university of medical sciences, tabriz, iran nikzad shahidi department of otorhinolaryngology, tabriz university of medical sciences, tabriz, iran mehrnoush mousaviagdas department of otorhinolaryngology, tabriz university of medical sciences, tabriz, iran

introduction: nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. the cause of the abnormal development of the pharyngeal arches in nager syndrome is unknown. it is also unclear why affected individuals have bone abnormalities in their arms and legs. nager syndrome is thought to have an autosomal recessive inheritan...

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