Ara
Toplam kayıt 131, listelenen: 31-40
The Fanconi Anemia Group E Gene, Fance, Maps to Chromosome 6P
(Univ Chicago Press, 1999)
Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disease with bone marrow failure and predisposition to cancer as major features, often accompanied by developmental anomalies. The cells of patients ...
Results of the Combined Treatment of Pediatric Intraspinal Tumors
(Stockton Press, 1992)
In this article 98 patients with paediatric intraspinal tumours are presented. All were evaluated according to their ages, sex, signs and symptoms. The patients also had radiological and histopathological studies; and the ...
Malignant Pleural Mesothelioma Caused by Environmental Exposure to Asbestos or Erionite in Rural Turkey - Ct Findings in 84 Patients
(Amer Roentgen Ray Soc, 1993)
OBJECTIVE. Malignant pleural mesothelioma in rural Turkey frequently results from environmental exposure to tremolite asbestos or fibrous zeolite (erionite). The aim of this study was to determine the CT features of malignant ...
A Novel Protein Tyrosine Phosphatase Gene is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (Epm2)
(Oxford Univ Press, 1999)
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like ...
A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9Q34
(Endocrine Soc, 1999)
Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have ...