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- 2022
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Mark
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer
(
- Contribution to journal › Article
- 2019
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Mark
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
(
- Contribution to journal › Article
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Mark
Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia
(
- Contribution to journal › Article
- 2017
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Mark
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
(
- Contribution to journal › Article
- 2016
-
Mark
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations
(
- Contribution to journal › Article
- 1998
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Mark
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome
(
- Contribution to journal › Article
- 1997
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Mark
Clonal chromosome aberrations are present in vivo in synovia and osteophytes from patients with osteoarthritis
(
- Contribution to journal › Article
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Mark
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
(
- Contribution to journal › Article
- 1992
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Mark
Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden
(
- Contribution to journal › Article
-
Mark
Further characterization of the new marker at DXS115 with regard to carrier detection in hemophilia A
(
- Contribution to journal › Letter