نتایج جستجو برای: q12

تعداد نتایج: 725  

2017
Simran Sidhu

Introduction Ewing’s sarcoma (ES) is the second most common bone tumor after osteosarcoma in children and adolescents. ES are aggressive tumors with a tendency towards recurrence following resection and pronounced proclivity toward early hematogenous metastases to lungs and bone. No hereditary or congenital syndromes, environmental or known risk factors have been associated with the occurrence ...

2012
Antonio Martuscelli

This paper analyses the role barriers to trade in the form of high transaction costs have on market participation and supply response in rural food markets in developing countries. We present an empirical application on a sample of households in the Tanzanian region of Kagera. Exploiting the availability of a long term panel dataset to develop an error components switching regression model we c...

2002
Marc F. Bellemare Christopher B. Barrett David R. Just

How does commodity price volatility affect the welfare of rural households in developing countries, for whom hedging and consumption smoothing are often difficult? And when governments choose to intervene in order to stabilize commodity prices, as they often do, who gains the most? This paper develops an analytical framework and an empirical strategy to answer those questions, along with illust...

Journal: :Archives of Iranian medicine 2014
Mir Davood Omrani Soraya Saleh Gargari Faezeh Azizi Niloufar Safavi Naini Sara Omrani

A 3-month old girl with monosomy for distal part of the short arm of chromosome 3 is described. Physical examination showed growth retardation, microcephaly, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism. The patient's clinical phenotype largely resembled that of 3p- syndrome but her karyotype was more complicated than just los...

2017
Christopher M. Wolfe Alexander Davis Tarek S. Shaath George F. Cohen

GJB2: gap junction protein b2 KID: keratitis-ichthyosis-deafness INTRODUCTION Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis with approximately 100 published cases. Although it is classified as an autosomal dominant disorder, more than 90% of cases are caused by sporadic mutations predominantly in gap junction protein b2 (GJB2) on chromosome 13q11-q12 (OMIM 148210). GJB2 ...

Journal: :Epileptic disorders : international epilepsy journal with videotape 2010
Jacques Rochette Patrice Roll Ying-Hui Fu Anne Gaëlle Lemoing Barbara Royer Agathe Roubertie Patrick Berquin Jacques Motte Sau Wei Wong Alasdair Hunter Andrée Robaglia-Schlupp Louis J Ptacek Pierre Szepetowski

Epilepsy and paroxysmal dyskinesia are two episodic cerebral disorders that can share a common genetic basis. Rare families with infantile seizures and paroxysmal dyskinesia [predominantly paroxysmal kinesigenic dyskinesia (PKD)], co-inherited as a single autosomal dominant trait, have been described (infantile convulsions with paroxysmal choreoathetosis; ICCA syndrome) and a disease gene has b...

2001
Palma Finelli Nicola S. Fracchiolla Daniela Giardino Giulietta Gottardi Daniela Lambertenghi Deliliers Agostino Cortelezzi Lidia Larizza Giorgio Lambertenghi Deliliers

We report a t(8;12)(q12; p13) as the sole cytogenetic anomaly in a patient with a myelodysplastic syndrome (MDS). By means of FISH, we mapped the genomic region involved in the breakpoint (bkp) on both chromosomes. The 12p13 bkp mapped between markers WI-664 and WI-9218, immediately distal to the breakpoint cluster region frequently involved in hematological neoplasms targeted by y964C10. The 8...

2014
Efthalia Dimara Dimitris Skuras

In this paper, we reconsider the appropriateness of certain statistical analyses in innovation adoption studies and suggest that partial observability models may sometimes be more useful. The proposed models allow for a flexible specification of the process of adoption from one stage to two stages, facilitate the modelling of non-adopters and remedy the violation of the assumption of full infor...

2014
Damien Chaste Emmanuel Vian Gregory Verhoest Pascal Blanchet

Translocation renal cell carcinoma (RCC) is a family of rare tumors recently identified in the pediatric and young adult population. We report the first case of a young woman from French West Indies with sickle cell anemia who developed a translocation RCC t(6;11)(p21;q12). Usually people with the sickle cell condition are known to develop renal medullary carcinoma (RMC). To our knowledge, this...

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