| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects
|
de la Cruz, June M.
|
|
2002
|
110 |
5 |
p. 422-428
|
artikel
|
| 2 |
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects
|
de la Cruz, June M.
|
|
2002
|
110 |
5 |
p. 422-428
|
artikel
|
| 3 |
An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome
|
Lutskiy, Maxim I.
|
|
2002
|
110 |
5 |
p. 515-519
|
artikel
|
| 4 |
An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome
|
Lutskiy, Maxim I.
|
|
2002
|
110 |
5 |
p. 515-519
|
artikel
|
| 5 |
Analysis of 22 deletion breakpoints in dystrophin intron 49
|
Nobile, Carlo
|
|
2002
|
110 |
5 |
p. 418-421
|
artikel
|
| 6 |
Analysis of 22 deletion breakpoints in dystrophin intron 49
|
Nobile, Carlo
|
|
2002
|
110 |
5 |
p. 418-421
|
artikel
|
| 7 |
A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron 4
|
Stasia, Marie
|
|
2002
|
110 |
5 |
p. 444-450
|
artikel
|
| 8 |
A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron 4
|
Stasia, Marie
|
|
2002
|
110 |
5 |
p. 444-450
|
artikel
|
| 9 |
A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?
|
Utsch, Boris
|
|
2002
|
110 |
5 |
p. 488-494
|
artikel
|
| 10 |
A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?
|
Utsch, Boris
|
|
2002
|
110 |
5 |
p. 488-494
|
artikel
|
| 11 |
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus
|
Mackey, David A.
|
|
2002
|
110 |
5 |
p. 510-512
|
artikel
|
| 12 |
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus
|
Mackey, David A.
|
|
2002
|
110 |
5 |
p. 510-512
|
artikel
|
| 13 |
D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?
|
Barthélémy, Cyrille
|
|
2002
|
110 |
5 |
p. 479-487
|
artikel
|
| 14 |
D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?
|
Barthélémy, Cyrille
|
|
2002
|
110 |
5 |
p. 479-487
|
artikel
|
| 15 |
Estimation of single nucleotide polymorphism allele frequency in DNA pools by using Pyrosequencing
|
Gruber, Jonathan D.
|
|
2002
|
110 |
5 |
p. 395-401
|
artikel
|
| 16 |
Estimation of single nucleotide polymorphism allele frequency in DNA pools by using Pyrosequencing
|
Gruber, Jonathan D.
|
|
2002
|
110 |
5 |
p. 395-401
|
artikel
|
| 17 |
Felix Mitelman: Database of chromosome aberrations in cancer
|
Haas, Oskar A.
|
|
2002
|
110 |
5 |
p. 524-525
|
artikel
|
| 18 |
FISH-mapping of a 100-kb terminal 22q13 deletion
|
Anderlid, Britt-Marie
|
|
2002
|
110 |
5 |
p. 439-443
|
artikel
|
| 19 |
FISH-mapping of a 100-kb terminal 22q13 deletion
|
Anderlid, Britt-Marie
|
|
2002
|
110 |
5 |
p. 439-443
|
artikel
|
| 20 |
Genetic diversity and evolution of the human leptin locus tetranucleotide repeat
|
Moffett, Susan
|
|
2002
|
110 |
5 |
p. 412-417
|
artikel
|
| 21 |
Genetic diversity and evolution of the human leptin locus tetranucleotide repeat
|
Moffett, Susan
|
|
2002
|
110 |
5 |
p. 412-417
|
artikel
|
| 22 |
Genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of birth weight
|
Lindsay, Robert S.
|
|
2002
|
110 |
5 |
p. 503-509
|
artikel
|
| 23 |
Genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of birth weight
|
Lindsay, Robert S.
|
|
2002
|
110 |
5 |
p. 503-509
|
artikel
|
| 24 |
Homocysteine in Health and Disease
|
Brenton, David
|
|
2002
|
110 |
5 |
p. 520-521
|
artikel
|
| 25 |
Identification of additional transcripts in the Williams-Beuren syndrome critical region
|
Merla, Giuseppe
|
|
2002
|
110 |
5 |
p. 429-438
|
artikel
|
| 26 |
Identification of additional transcripts in the Williams-Beuren syndrome critical region
|
Merla, Giuseppe
|
|
2002
|
110 |
5 |
p. 429-438
|
artikel
|
| 27 |
Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia
|
Fullerton, Jan
|
|
2002
|
110 |
5 |
p. 462-470
|
artikel
|
| 28 |
Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia
|
Fullerton, Jan
|
|
2002
|
110 |
5 |
p. 462-470
|
artikel
|
| 29 |
Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma
|
Aung, Tin
|
|
2002
|
110 |
5 |
p. 513-514
|
artikel
|
| 30 |
Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma
|
Aung, Tin
|
|
2002
|
110 |
5 |
p. 513-514
|
artikel
|
| 31 |
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
|
Cryns, Kim
|
|
2002
|
110 |
5 |
p. 389-394
|
artikel
|
| 32 |
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
|
Cryns, Kim
|
|
2002
|
110 |
5 |
p. 389-394
|
artikel
|
| 33 |
Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA
|
Malik, Safarina
|
|
2002
|
110 |
5 |
p. 402-411
|
artikel
|
| 34 |
Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA
|
Malik, Safarina
|
|
2002
|
110 |
5 |
p. 402-411
|
artikel
|
| 35 |
Robert J. Gorlin, M. Michael Cohen Jr, Raoul C.M. Hennekam (eds): Syndromes of the Head and Neck, 4th edition
|
Allanson, Judith
|
|
2002
|
110 |
5 |
p. 522-523
|
artikel
|
| 36 |
RT-PCR splicing analysis of the NF1 open reading frame
|
Thomson, Susanne A.
|
|
2002
|
110 |
5 |
p. 495-502
|
artikel
|
| 37 |
RT-PCR splicing analysis of the NF1 open reading frame
|
Thomson, Susanne A.
|
|
2002
|
110 |
5 |
p. 495-502
|
artikel
|
| 38 |
Transmission disequilibrium test with discordant sib pairs when parents are available
|
Deng, Hong-Wen
|
|
2002
|
110 |
5 |
p. 451-461
|
artikel
|
| 39 |
Transmission disequilibrium test with discordant sib pairs when parents are available
|
Deng, Hong-Wen
|
|
2002
|
110 |
5 |
p. 451-461
|
artikel
|
| 40 |
Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools
|
Norton, Nadine
|
|
2002
|
110 |
5 |
p. 471-478
|
artikel
|
| 41 |
Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools
|
Norton, Nadine
|
|
2002
|
110 |
5 |
p. 471-478
|
artikel
|
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