scholarly journals A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene

2021 ◽  
Author(s):  
Diana A. Olszewska ◽  
Conor Fearon ◽  
Christopher McGuigan ◽  
Terri P McVeigh ◽  
Henry Houlden ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Pathological Study ◽  
Splicing Variant ◽  
Mapt Gene ◽  
Exon 10 ◽  
Clinical Molecular Genetics

scholarly journals Clinical, molecular genetics and therapeutic aspects of syndromic obesity

2018 ◽  
Vol 95 (1) ◽  
pp. 23-40 ◽  
Author(s):  
E. Geets ◽  
M.E.C. Meuwissen ◽  
W. Van Hul
Keyword(s):  
Molecular Genetics ◽  
Syndromic Obesity ◽  
Clinical Molecular Genetics

Clinical molecular genetics evaluation in women with reproductive failures

2020 ◽  
Author(s):  
Mahmood Y. Bilal ◽  
Gajendra Katara ◽  
Svetlana Dambaeva ◽  
Joanne Kwak‐Kim ◽  
Alice Gilman‐Sachs ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Clinical Molecular Genetics

scholarly journals Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (IUPAC Technical Report)

2018 ◽  
Vol 90 (7) ◽  
pp. 1199-1220 ◽  
Author(s):  
Ulla M. Petersen ◽  
Ariadna Padró-Miquel ◽  
Graham Taylor ◽  
Jens Michael Hertz ◽  
Rebecca Ceder ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Clinical Laboratory ◽  
Subject Field ◽  
Technical Report ◽  
Different Types ◽  
The Subject ◽  
Clinical Laboratory Sciences ◽  
Clinical Molecular Genetics

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.

Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (technical report 2017)

2018 ◽  
Vol 484 ◽  
pp. 122-131 ◽  
Author(s):  
Ulla M. Petersen ◽  
Ariadna Padró-Miquel ◽  
Graham Taylor ◽  
Jens Michael Hertz ◽  
Rebecca Ceder ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Clinical Laboratory ◽  
Technical Report ◽  
Clinical Laboratory Sciences ◽  
Clinical Molecular Genetics
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