نتایج جستجو برای: van wyk grumbach syndrome

تعداد نتایج: 686793  

2007

s: Dennison A, Plampin E, Ellis R, Van Metre D, et al (2001). Correlation of Clostridium perfringens a toxin activity and disease severity in isolates from cows with hemorrhagic bowel syndrome (abstract). Proceedings, 82nd Annual Meeting, Conference of Research Workers in Animal Diseases, 108. Dennison A, Van Metre D, Callan R, Mason G, et al (2002). Hemorrhagic bowel syndrome of adult cattle; ...

Journal: :genetics in the 3rd millennium 0
سمیرا یادگاری samira yadegari department of neurology, shariati hospital, tehran university of medical sciences, tehran, iran شهریار نفیسی shahriar nafissi

brown-vialetto-van laere syndrome (bvvls) is a rare neurological disorder of unknown etiology considered to be a form of motor neuron diseases. this syndrome is characterized by bilateral deafness and involvement of lower cranial nerves, especially 7th-12th. umn signs are less frequent. until 2007, only fifty eight cases were reported. half of the reported cases were sporadic. in the remaining ...

2012
R. Sudhakara Reddy T. Ramesh N. Vijayalaxmi R. Lavanya Reddy L A. Swapna T. Rajesh Singh

Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or bo...

Journal: :The Journal of craniofacial surgery 2005
Cenk Tokat Ufuk Bilkay Ecmel Songur Yalcin Akin

This article discusses monozygotic twin patients with Van der Woude syndrome, the most common form of syndromic cleft lip and palate, who have concordant manifestations. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with clinical features, including lower lip sinuses with a cleft lip, cleft palate, or both. Some mutations ha...

2016
Dr. Saravana Kumar

Aim: To review the causes, symptoms, treatment, prevalence and diagnosis of VanDerWoude Syndrome. Objective : This review aims at analysing the genetic defects and facts about this rare disease in human population. Background : VanDerWoude syndrome is an autosomal dominant syndrome characterized by a cleft lip or cleft palate, distinctive pits of the lower lips, or both. It is the most common s...

2009
Miloš Vasin Rainer Helmig

xix Zusammenfassung xxi 0.1 Einfluss von Struktur auf die Schätzung effektiver Parameter und Bewertung der Annahmen bei der Modellierung von Strömungsprozessen unter Gleichgewichtsbedingungen (Frage 1 und 2) . . . xxiii 0.2 Analyse der Zeitskalen für Strömungsprozesse unter Nicht-Gleichgewichtsbedingungen und Untersuchung der Bedeutung von Grenzflächen während der Drainage . . . . . . . . . . ....

2012
Sanet van Zyl Lynette J. van der Merwe Corinna M. Walsh Andries J. Groenewald Francois C. van Rooyen

How to cite this article: Van Zyl S, Van der Merwe LJ, Walsh CM, Groenewald AJ, Van Rooyen FC. Risk-factor profiles for chronic diseases of lifestyle and metabolic syndrome in an urban and rural setting in South Africa. Afr J Prm Health Care Fam Med. 2012;4(1), Art. #346, 10 pages. http://dx.doi. org/10.4102/phcfm.v4i1.346 Background: Chronic lifestyle diseases share similar modifiable risk fac...

Journal: :Archives of pathology & laboratory medicine 2005
Deven Scurlock Daniel Ostler Andy Nguyen Amer Wahed

Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hemat...

1978
Subash Singh Vandana Arya M Jonathan Daniel Vijeev Vasudevan

Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the skeletal dysplasia. 'Six-fingered dwarfism' (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish. It is characterized by short-limb dwarfism, polydactyly, malformation of the bones of the wrist, dys...

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