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- 2013
-
Mark
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
(
- Contribution to journal › Article
- 2008
-
Mark
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
(
- Contribution to journal › Article
-
Mark
Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12
(
- Contribution to journal › Article
- 2006
-
Mark
Cerebrospinal fluid levels of orexin-A are not a clinically useful biomarker for Huntington disease.
(
- Contribution to journal › Letter
-
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
-
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
-
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
-
Mark
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)
(
- Contribution to journal › Article
-
Mark
How do carriers of hemophilia and their spouses experience prenatal diagnosis by chorionic villus sampling?
(
- Contribution to journal › Article
- 1998
-
Mark
No association between the androgen receptor gene CAG repeat and impaired sperm production in Swedish men [1]
(
- Contribution to journal › Letter