| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
|
Posch, Maximilian G.
|
|
2008
|
95 |
1-2 |
p. 74-80
7 p.
|
artikel
|
| 2 |
Association of the BDNF Val66Met variation with obesity in women
|
Beckers, Sigri
|
|
2008
|
95 |
1-2 |
p. 110-112
3 p.
|
artikel
|
| 3 |
Attitudes regarding vaccination among practitioners of clinical biochemical genetics
|
Barshop, Bruce A.
|
|
2008
|
95 |
1-2 |
p. 1-2
2 p.
|
artikel
|
| 4 |
A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism
|
Campeau, Philippe M.
|
|
2008
|
95 |
1-2 |
p. 11-16
6 p.
|
artikel
|
| 5 |
Cell-based therapies for metabolic liver disease
|
Enns, Gregory M.
|
|
2008
|
95 |
1-2 |
p. 3-10
8 p.
|
artikel
|
| 6 |
Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: Myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brain
|
Buccafusca, Roberto
|
|
2008
|
95 |
1-2 |
p. 81-95
15 p.
|
artikel
|
| 7 |
Cover 2 / Ed. Board
|
|
|
2008
|
95 |
1-2 |
p. IFC-
1 p.
|
artikel
|
| 8 |
Enzyme replacement therapy in Fabry disease: Comparison of agalsidase alfa and agalsidase beta
|
Mehta, Atul
|
|
2008
|
95 |
1-2 |
p. 114-115
2 p.
|
artikel
|
| 9 |
ERCC1 is required for FANCD2 focus formation
|
McCabe, Kevin M.
|
|
2008
|
95 |
1-2 |
p. 66-73
8 p.
|
artikel
|
| 10 |
Growth rate of patient-derived lymphoblastoid cells with LRRK2 mutations
|
Tan, Eng-King
|
|
2008
|
95 |
1-2 |
p. 113-
1 p.
|
artikel
|
| 11 |
1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency
|
Gropman, A.L.
|
|
2008
|
95 |
1-2 |
p. 21-30
10 p.
|
artikel
|
| 12 |
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria
|
Cosson, M.A.
|
|
2008
|
95 |
1-2 |
p. 107-109
3 p.
|
artikel
|
| 13 |
LPIN1 genetic variation is associated with rosiglitazone response in type 2 diabetic patients
|
Kang, Eun Seok
|
|
2008
|
95 |
1-2 |
p. 96-100
5 p.
|
artikel
|
| 14 |
Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia
|
Bustamante-Aragones, Ana
|
|
2008
|
95 |
1-2 |
p. 101-103
3 p.
|
artikel
|
| 15 |
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
|
Waisbren, S.E.
|
|
2008
|
95 |
1-2 |
p. 39-45
7 p.
|
artikel
|
| 16 |
Spontaneous appearance of Tay–Sachs disease in an animal model
|
Zeng, B.J.
|
|
2008
|
95 |
1-2 |
p. 59-65
7 p.
|
artikel
|
| 17 |
Stability of blood phenylalanine levels and IQ in children with phenylketonuria
|
Anastasoaie, Vera
|
|
2008
|
95 |
1-2 |
p. 17-20
4 p.
|
artikel
|
| 18 |
Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency
|
Purevsuren, Jamiyan
|
|
2008
|
95 |
1-2 |
p. 46-51
6 p.
|
artikel
|
| 19 |
Table of Contents
|
|
|
2008
|
95 |
1-2 |
p. iii-iv
nvt p.
|
artikel
|
| 20 |
The molecular basis of pyruvate carboxylase deficiency: Mosaicism correlates with prolonged survival
|
Wang, Dong
|
|
2008
|
95 |
1-2 |
p. 31-38
8 p.
|
artikel
|
| 21 |
Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism
|
Yamani, Lama
|
|
2008
|
95 |
1-2 |
p. 104-106
3 p.
|
artikel
|
| 22 |
Unclassified polysaccharidosis of the heart and skeletal muscle in siblings
|
Schoser, Benedikt
|
|
2008
|
95 |
1-2 |
p. 52-58
7 p.
|
artikel
|
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