| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements
|
Jobanputra, Vaidehi
|
|
|
7 |
2 |
p. 111-118
|
artikel
|
| 2 |
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory
|
Klein, Roger D.
|
|
|
7 |
2 |
p. 131-138
|
artikel
|
| 3 |
Computerized cognitive testing in patients with type I Gaucher disease: Effects of enzyme replacement and substrate reduction
|
Elstein, Deborah
|
|
|
7 |
2 |
p. 124-130
|
artikel
|
| 4 |
CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: A HuGEnet™ systematic review and meta-analysis
|
Sanderson, Simon
|
|
|
7 |
2 |
p. 97-104
|
artikel
|
| 5 |
How frequent is altered gene expression among susceptibility genes to human complex disorders?
|
Jais, Philippe H.
|
|
|
7 |
2 |
p. 83-96
|
artikel
|
| 6 |
Individualization of long-term enzyme replacement therapy for Gaucher disease
|
Andersson, Hans C.
|
|
|
7 |
2 |
p. 105-110
|
artikel
|
| 7 |
Infantile onset Pompe disease: A report of physician narratives from an epidemiologic study
|
Marsden, Deborah
|
|
|
7 |
2 |
p. 147-150
|
artikel
|
| 8 |
Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients
|
Neudorfer, Orit
|
|
|
7 |
2 |
p. 119-123
|
artikel
|
| 9 |
Meeting Announcement
|
Spector, Elaine B.
|
|
|
7 |
2 |
p. 151-153
|
artikel
|
| 10 |
Meetings Calendar
|
|
|
|
7 |
2 |
p. 154
|
artikel
|
| 11 |
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome
|
Grewal, Satkiran S.
|
|
|
7 |
2 |
p. 143-146
|
artikel
|
| 12 |
Systematic follow-up and case management of the abnormal newborn screen can improve acceptance of genetic counseling for sickle cell or other hemoglobinopathy trait
|
Kladny, Beth
|
|
|
7 |
2 |
p. 139-142
|
artikel
|
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