Results 301 to 310 of about 591,252 (334)

Clinical and Genetic Features of Choroideremia

Japanese Journal of Ophthalmology, 2000
Background: Choroideremia is an X-linked hereditary eye disease that causes progressive degeneration of the choroid and retina and frequently leads to legal blindness in later life. Recent molecular genetic studies have revealed mutations involving the Rab escort protein (REP-1) gene localized at Xq 21.Clinical Features: The clinical picture and rate ...
Norio Ohba, Yasushi Isashiki
openaire   +4 more sources

The Clinical Genetics Databases [PDF]

, 2003
This introduction to Clinical Genetics reviews a selection of major internet resources drawn from the current large and growing listing. These include genetic variation, diagnostics, laboratory services, regulatory bodies and sequence data. Each of these sites can be regarded as the starting point for a journey to the wealth of information.
openaire   +1 more source

Clinical Genetics for the Pulmonologist: Introduction

Respiration, 2005
International ...
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An overview of clinical molecular genetics

Molecular Biotechnology, 1997
Clinical molecular genetics has only recently become recognizable as a diagnostic discipline in its own right-gradually becoming distinct from its academic-and research-based origins. This chapter seeks to give some shape and context to the contrtbutions that follow and add to previously published ideas of how diagnostic laboratories are structured and
openaire   +4 more sources

Clinical Genetics of Refinoblastoma

International Ophthalmology Clinics, 1993
Jerry A. Shields, Larry A. Donoso, Carol L. Shields   +2 more
openaire   +3 more sources

Clinical perinatal genetics

Seminars in Fetal and Neonatal Medicine, 2011
The-Hung Bui, Britt-Marie Anderlid
openaire   +3 more sources

Clinical genetics of epilepsy

Psychiatry and Clinical Neurosciences, 1995
Norihiko Iida, Takayuki Tsuboi
openaire   +3 more sources

Genetics in the clinic Clinical Genetics – A Short Course

Trends in Molecular Medicine, 2001
openaire   +2 more sources

Using human genetics to improve safety assessment of therapeutics

Nature Reviews Drug Discovery, 2023
Keren Carss, Aimee M Deaton, Peter Newham   +2 more
exaly  

Clinical Molecular Genetics

Current Protocols in Human Genetics, 2001
openaire   +2 more sources