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- 2016
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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
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Mark
Origin of mutation in sporadic cases of severe haemophilia A in Sweden.
(
- Contribution to journal › Article
- 2015
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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
Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.
(
- 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
Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12
(
- Contribution to journal › Article
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Mark
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
(
- 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