| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract
|
Ren, Zhaoxia
|
|
2000
|
106 |
5 |
p. 531-537
|
artikel
|
| 2 |
A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract
|
Ren, Zhaoxia
|
|
2000
|
106 |
5 |
p. 531-537
|
artikel
|
| 3 |
A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden
|
Shugart, Yin Yao
|
|
2000
|
106 |
5 |
p. 553-556
|
artikel
|
| 4 |
A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden
|
Shugart, Yin Yao
|
|
2000
|
106 |
5 |
p. 553-556
|
artikel
|
| 5 |
Analysis of genetic polymorphisms in the transforming growth factor-β1 gene and the risk of Alzheimer's disease
|
Luedecking, Erin K.
|
|
2000
|
106 |
5 |
p. 565-569
|
artikel
|
| 6 |
Analysis of genetic polymorphisms in the transforming growth factor-β1 gene and the risk of Alzheimer's disease
|
Luedecking, Erin K.
|
|
2000
|
106 |
5 |
p. 565-569
|
artikel
|
| 7 |
Association of the low-density lipoprotein receptor gene with obesity in Native American populations
|
Mattevi, Vanessa S.
|
|
2000
|
106 |
5 |
p. 546-552
|
artikel
|
| 8 |
Association of the low-density lipoprotein receptor gene with obesity in Native American populations
|
Mattevi, Vanessa S.
|
|
2000
|
106 |
5 |
p. 546-552
|
artikel
|
| 9 |
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13
|
Kelley, Michael J.
|
|
2000
|
106 |
5 |
p. 557-564
|
artikel
|
| 10 |
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13
|
Kelley, Michael J.
|
|
2000
|
106 |
5 |
p. 557-564
|
artikel
|
| 11 |
Erratum to Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families
|
Miura, Yuichi
|
|
2000
|
106 |
5 |
p. 575
|
artikel
|
| 12 |
Fine mapping of the constitutional translocation t(11;22)(q23;q11)
|
Tapia-Páez, Isabel
|
|
2000
|
106 |
5 |
p. 506-516
|
artikel
|
| 13 |
Fine mapping of the constitutional translocation t(11;22)(q23;q11)
|
Tapia-Páez, Isabel
|
|
2000
|
106 |
5 |
p. 506-516
|
artikel
|
| 14 |
Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type 2 diabetes
|
Burke, James P.
|
|
2000
|
106 |
5 |
p. 467-472
|
artikel
|
| 15 |
Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type 2 diabetes
|
Burke, James P.
|
|
2000
|
106 |
5 |
p. 467-472
|
artikel
|
| 16 |
Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei
|
Blanco, Joan
|
|
2000
|
106 |
5 |
p. 500-505
|
artikel
|
| 17 |
Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei
|
Blanco, Joan
|
|
2000
|
106 |
5 |
p. 500-505
|
artikel
|
| 18 |
Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies
|
Estop, Anna M.
|
|
2000
|
106 |
5 |
p. 517-524
|
artikel
|
| 19 |
Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies
|
Estop, Anna M.
|
|
2000
|
106 |
5 |
p. 517-524
|
artikel
|
| 20 |
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
|
Imbach, Timo
|
|
2000
|
106 |
5 |
p. 538-545
|
artikel
|
| 21 |
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
|
Imbach, Timo
|
|
2000
|
106 |
5 |
p. 538-545
|
artikel
|
| 22 |
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies
|
Shevchenko, Yuriy O.
|
|
2000
|
106 |
5 |
p. 492-499
|
artikel
|
| 23 |
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies
|
Shevchenko, Yuriy O.
|
|
2000
|
106 |
5 |
p. 492-499
|
artikel
|
| 24 |
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency
|
Ishibashi, Fuminari
|
|
2000
|
106 |
5 |
p. 473-481
|
artikel
|
| 25 |
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency
|
Ishibashi, Fuminari
|
|
2000
|
106 |
5 |
p. 473-481
|
artikel
|
| 26 |
The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease
|
Odermatt, Alex
|
|
2000
|
106 |
5 |
p. 482-491
|
artikel
|
| 27 |
The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease
|
Odermatt, Alex
|
|
2000
|
106 |
5 |
p. 482-491
|
artikel
|
| 28 |
Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction
|
Maratou, Klio
|
|
2000
|
106 |
5 |
p. 525-530
|
artikel
|
| 29 |
Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction
|
Maratou, Klio
|
|
2000
|
106 |
5 |
p. 525-530
|
artikel
|
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