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eBook Molecular Clinical Genetic Studies of a Novel Variant of Familial Hypercalcemia (Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, 1147) download

by Eva Szabo

eBook Molecular  Clinical Genetic Studies of a Novel Variant of Familial Hypercalcemia (Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, 1147) download ISBN: 9155453007
Author: Eva Szabo
Publisher: Uppsala Universitet (May 1, 2002)
Language: English
Pages: 57
ePub: 1521 kb
Fb2: 1132 kb
Rating: 4.1
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Category: Different
Subcategory: Medicine and Health Sciences

Hypercalcemia (Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, 1147).

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University dissertation from Uppsala : Acta Universitatis Upsaliensis.

Dissertation: Molecular and clinical genetic studies of a novel variant of familial hypercalcemia. Show downloadable dissertations only. University dissertation from Uppsala : Acta Universitatis Upsaliensis.

Molecular & Clinical Genetic Studies of a Novel Variant of Familial Hypercalcemia (Comprehensive Summaries of Uppsala Dissertations from the . From Gale Encyclopedia of Medicine, 4/6/01 by Karen Ericson

From Gale Encyclopedia of Medicine, 4/6/01 by Karen Ericson. Small Cell Carcinoma of the Ovary With Hypercalcemia and Ectopic Parathyroid Hormone Production Small cell carcinoma of the ovary is a rare malignant tumor of the ovary. It is the most common undifferentiated ovarian carcinoma in young women.

Clinical gastroenterology. Molecular genetics of multiple endocrine neoplasia types 1 and 2. SJ Marx. Mammalian cyclin-dependent kinases. Marcos Malumbres, Mariano Barbacid. Trends in biochemical sciences. Cyclin-dependent kinase (cdk6) and p16 in pancreatic endocrine neoplasms.

Crick, Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease. Anna Sillén, Jorge Andrade, +5 authors Caroline Graff. European Journal of Human Genetics.

Series Statement: Comprehensive summaries of Uppsala dissertations from the Faculty of Medicine ; 1147. C) 2017-2018 All rights are reserved by their owners. Dissertation Note: Thesis (doctoral) Uppsala, 2002. Uniform Title: Acta Universitatis Upsaliensis. On this site it is impossible to download the book, read the book online or get the contents of a book. The administration of the site is not responsible for the content of the site. The data of catalog based on open source database.

This study describes the clinical and molecular genetic features observed in this specific LHON subgroup. Importance: There are limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants. These data are needed both for prognostic counseling of patients and for understanding potential treatment windows.

Over the past decades, molecular genetic studies in patients with rare . Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP).

The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine (Baltimore). CrossRefGoogle Scholar.

Familial Hyperparathyroidism (HPT) and Familial benign Hypocalciuric Hypercalcemia (FHH) are the .

FHH has been demonstrated to be caused by inactivating mutations of calcium-sensing receptor (CaSR) gene, involved in PTH regulation as well as in renal calcium excretion. This is a case of a novel inactivating point mutation of CaSR gene that determines an atypical clinical presentation of FHH, characterized by hypercalcemia, hypercalciuria and inadequate normal PTH levels.

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