You are on the new improved site. You can view the old site in view-only mode here until June 27, 2026

Filter Results

Search all journals

Enter search terms…

Advanced search

/

About

About Sage
About Sage Journals
Privacy Policy
Terms of Use
Contact Us
Help

Information for

Authors
Editors
Librarians
Researchers
Reviewers
Frequently asked questions

Copyright © 2026 by Sage Publications.京ICP备09090397号-11

Search results

Search results page

Articles (2456)

Journals (0)

1-10 of 2456 results for familial mutations

Sort by:

Relevance

Select all

Select all

Sort by:

Relevance

Select article: Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia

Retricted access

Research article

First published 2017-7

Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia

Paolo Rubba, Marco Gentile, Gennaro Marotta [...]

European Journal of Preventive Cardiology

Select article: A novel deletion mutation accompanied by a point mutation in Lamin A/C gene: Screened from a dilated cardiomyopathy family

Retricted access

Research article

First published 2023-5

A novel deletion mutation accompanied by a point mutation in Lamin A/C gene: Screened from a dilated cardiomyopathy family

Hao Jia, Yongxin Sun, Wangchao Yao [...]

Perfusion

Select article: Correlation of KMT2 family mutations with molecular characteristics and prognosis in colorectal cancer

Open access

Research article

First published 2022-6

Correlation of KMT2 family mutations with molecular characteristics and prognosis in colorectal cancer

Cun Liao, Wei Huang, Minglin Lin [...]

The International Journal of Biological Markers

Select article: Clinical-Genetic Correlations in Familial Alzheimer's Disease Caused by Presenilin 1 Mutations

Retricted access

Research article

First published 2010-1-28

Clinical-Genetic Correlations in Familial Alzheimer's Disease Caused by Presenilin 1 Mutations

Estrella Gómez-Tortosa, Sagrario Barquero, Manuel Barón [...]

Journal of Alzheimer’s Disease

Select article: One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease

Retricted access

Research article

First published 2005

One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease

Jianping Jia, Erhe Xu, Yankun Shao [...]

Journal of Alzheimer’s Disease

Select article: Two Novel Mutations Causing Familial Benign Hypocalciuric Hypercalcaemia in Three Scottish Families

Retricted access

Research article

First published 2009-11

Two Novel Mutations Causing Familial Benign Hypocalciuric Hypercalcaemia in Three Scottish Families

J Hinnie, JK Vass, E Rolfe [...]

Scottish Medical Journal

Select article: Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene

Free access

Research article

First published 2014-3

Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene

Christian Roth, Tobias Freilinger, Georgi Kirovski [...]

Cephalalgia

Select article: Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer

Free access

Research article

First published 2008-1

Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer

W. Troudi, N. Uhrhammer, K. Ben Romdhane [...]

Cancer Biomarkers

Select article: A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report

Open access

Research article

First published 2026-3

A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report

Xiaoran Tao, Mengsha Yin, Xiaokun Gang

Journal of International Medical Research

Select article: Heterozygous desmin gene ( DES ) mutation contributes to familial dilated cardiomyopathy

Open access

Case report

First published 2021-4

Heterozygous desmin gene ( DES ) mutation contributes to familial dilated cardiomyopathy

Ying-shuo Huang, Yun-li Xing, Hong-wei Li

Journal of International Medical Research

1
2
3
•••
246
10 / page

Article type

Publication date

Subjects

Access