| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture
|
Khandjian, Edouard W.
|
|
1995
|
4 |
5 |
p. 783-789
|
artikel
|
| 2 |
A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
|
Kivirikko, Sirpa
|
|
1995
|
4 |
5 |
p. 959-962
|
artikel
|
| 3 |
A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region
|
Lamour, Valé
|
|
1995
|
4 |
5 |
p. 791-799
|
artikel
|
| 4 |
A novel dystrophin isoform is required for normal retinal electrophysiology
|
D'Souza, Vinita N.
|
|
1995
|
4 |
5 |
p. 837-842
|
artikel
|
| 5 |
A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q
|
Vincent, P.
|
|
1995
|
4 |
5 |
p. 945-949
|
artikel
|
| 6 |
Author index
|
|
|
1995
|
4 |
5 |
p. 973-973
|
artikel
|
| 7 |
Characterization of FMR1 proteins isolated from different tissues
|
Verhell, Coleta
|
|
1995
|
4 |
5 |
p. 895-901
|
artikel
|
| 8 |
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
|
Lunt, Peter W.
|
|
1995
|
4 |
5 |
p. 951-958
|
artikel
|
| 9 |
CORRIGENDUM
|
Borish, L.
|
|
1995
|
4 |
5 |
p. 974-974
|
artikel
|
| 10 |
CORRIGENDUM
|
Kobayashi, K.
|
|
1995
|
4 |
5 |
p. 974-974
|
artikel
|
| 11 |
Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies
|
Lawson, Claire T.
|
|
1995
|
4 |
5 |
p. 963-967
|
artikel
|
| 12 |
ERRATUM
|
Telenius, H.
|
|
1995
|
4 |
5 |
p. 974-974
|
artikel
|
| 13 |
High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes
|
Florijn, Ralpha J.
|
|
1995
|
4 |
5 |
p. 831-836
|
artikel
|
| 14 |
Human cell mutants with very low mitochondrial DNA copy number (ρd)
|
Vaillant, François
|
|
1995
|
4 |
5 |
p. 903-914
|
artikel
|
| 15 |
Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region
|
Bergen, Arthur A.B.
|
|
1995
|
4 |
5 |
p. 931-935
|
artikel
|
| 16 |
Mitochondrial DNA diversity in the Kuna Amerinds of Panamá
|
Batista, Oriana
|
|
1995
|
4 |
5 |
p. 921-929
|
artikel
|
| 17 |
Molecular analysis of type II 3β-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3β-hydroxysteroid dehydrogenase deficiency
|
Tajima, Toshihiro
|
|
1995
|
4 |
5 |
p. 969-971
|
artikel
|
| 18 |
Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
|
Maruyama, Hirofumi
|
|
1995
|
4 |
5 |
p. 807-812
|
artikel
|
| 19 |
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
|
Angrist, Misha
|
|
1995
|
4 |
5 |
p. 821-830
|
artikel
|
| 20 |
Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene
|
Danglot, Glséle
|
|
1995
|
4 |
5 |
p. 915-920
|
artikel
|
| 21 |
No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease
|
Liddell, Malcolm B.
|
|
1995
|
4 |
5 |
p. 853-858
|
artikel
|
| 22 |
Nucleotide sequence analysis of the apolipoprotein B 3′ VNTR
|
Ellsworth, Darrell L.
|
|
1995
|
4 |
5 |
p. 937-944
|
artikel
|
| 23 |
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews
|
Glaser, Benjamin
|
|
1995
|
4 |
5 |
p. 879-886
|
artikel
|
| 24 |
Sex-specific meiotic recombination in the Prader—Willi/Angelman syndrome imprinted region
|
Robinson, Wendy P.
|
|
1995
|
4 |
5 |
p. 801-806
|
artikel
|
| 25 |
Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus
|
Jansen, Gert
|
|
1995
|
4 |
5 |
p. 843-852
|
artikel
|
| 26 |
The distribution of linkage disequilibrium over anonymous genome regions
|
Peterson, Amy C.
|
|
1995
|
4 |
5 |
p. 887-894
|
artikel
|
| 27 |
The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability
|
Klink, Albrecht
|
|
1995
|
4 |
5 |
p. 869-878
|
artikel
|
| 28 |
The human Y chromosome homologue of XG: transcription of a naturally truncated gene
|
Weller, Polly A.
|
|
1995
|
4 |
5 |
p. 859-868
|
artikel
|
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