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- 2019
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Mark
Functional characterization of novel germline TP53 variants in Swedish families
(
- Contribution to journal › Article
- 2018
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Mark
Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication
(
- Contribution to journal › Article
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Mark
Enrichment of rare copy number variation in children with developmental language disorder
(
- Contribution to journal › Article
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Mark
How do consent forms for diagnostic high-throughput sequencing address unsolicited and secondary findings? A content analysis
(
- Contribution to journal › Article
- 2017
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Mark
Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation
(
- Contribution to journal › Article
- 2016
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Mark
Origin of mutation in sporadic cases of severe haemophilia A in Sweden.
(
- Contribution to journal › Article
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Mark
L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.
2016) In Clinical Genetics(
- Contribution to journal › Article
- 2015
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Mark
Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.
(
- Contribution to journal › Article
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Mark
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma
(
- Contribution to journal › Article
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Mark
The risk of contralateral breast cancer in daughters of women with and without breast cancer.
2015) In Clinical Genetics(
- Contribution to journal › Article
- 2013
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Mark
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
(
- Contribution to journal › Article
- 2008
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Mark
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
(
- Contribution to journal › Article
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Mark
Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12
(
- Contribution to journal › Article
- 2006
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Mark
Cerebrospinal fluid levels of orexin-A are not a clinically useful biomarker for Huntington disease.
(
- Contribution to journal › Letter
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Mark
Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities
(
- Contribution to journal › Letter
- 2004
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Mark
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.
(
- Contribution to journal › Article
- 2003
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Mark
Ring Y chromosome in an azoospermic male with short stature: additional evidence for a distinct ring Y syndrome in non-mosaic patients?
(
- Contribution to journal › Letter
- 1999
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Mark
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)
(
- Contribution to journal › Article
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Mark
How do carriers of hemophilia and their spouses experience prenatal diagnosis by chorionic villus sampling?
(
- Contribution to journal › Article
- 1998
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Mark
No association between the androgen receptor gene CAG repeat and impaired sperm production in Swedish men [1]
(
- Contribution to journal › Letter