Clinical Molecular Genetics

2001 ◽  
Vol 29 (1) ◽  
Author(s):  
Bruce R. Korf
2018 ◽  
Vol 95 (1) ◽  
pp. 23-40 ◽  
Author(s):  
E. Geets ◽  
M.E.C. Meuwissen ◽  
W. Van Hul

Author(s):  
Mahmood Y. Bilal ◽  
Gajendra Katara ◽  
Svetlana Dambaeva ◽  
Joanne Kwak‐Kim ◽  
Alice Gilman‐Sachs ◽  
...  

2018 ◽  
Vol 90 (7) ◽  
pp. 1199-1220 ◽  
Author(s):  
Ulla M. Petersen ◽  
Ariadna Padró-Miquel ◽  
Graham Taylor ◽  
Jens Michael Hertz ◽  
Rebecca Ceder ◽  
...  

Abstract This document describes the application of the syntax, semantic rules, and format of the Nomenclature for Properties and Units (NPU) terminology for coded dedicated kinds-of-property in the subject field of clinical molecular genetics. A vocabulary for NPU definitions in this field, based on international terminology and nomenclature, is introduced and examples of actual NPU definitions for different types of investigations are given and explained.


2018 ◽  
Vol 484 ◽  
pp. 122-131 ◽  
Author(s):  
Ulla M. Petersen ◽  
Ariadna Padró-Miquel ◽  
Graham Taylor ◽  
Jens Michael Hertz ◽  
Rebecca Ceder ◽  
...  

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