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- 2001
-
Mark
Limitations of chromosome classification by multicolor karyotyping
(
- Contribution to journal › Article
-
Mark
Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation
(
- Contribution to journal › Article
-
Mark
Somatic mosaicism in hemophilia A: A fairly common event
(
- Contribution to journal › Article
- 2000
-
Mark
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
(
- Contribution to journal › Article
- 1998
-
Mark
NAGLU mutations underlying Sanfilippo syndrome type B
(
- Contribution to journal › Article
- 1997
-
Mark
Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer
(
- Contribution to journal › Article
-
Mark
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region, but splice defects in two families
(
- Contribution to journal › Article
-
Mark
Molecular/structural characterization of novel mutations and identification of novel polymorphisms in the Bruton's tyrosine kinase (Btk) gene from patients with X-linked agammaglobulinemia (XLA).
(
- Contribution to journal › Published meeting abstract
-
Mark
Family cell lines available for research - An endangered resource? [7]
(
- Contribution to journal › Letter
- 1996
-
Mark
Founding BRCA1 Mutations in Hereditary Breast and Ovarian Cancer in Southern Sweden
(
- Contribution to journal › Article