| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo deletion in FMR1 in a patient with developmental delay
|
Gu, Yanghong
|
|
1994
|
3 |
9 |
p. 1705-1706
|
artikel
|
| 2 |
A dinucleotide repeat polymorphism at the D9S749 locus
|
Brown, G.M.
|
|
1994
|
3 |
9 |
p. 1713-1713
|
artikel
|
| 3 |
A family with Ehlers — Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen
|
Narcisi, Paolo
|
|
1994
|
3 |
9 |
p. 1617-1620
|
artikel
|
| 4 |
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease
|
Paganl, Franco
|
|
1994
|
3 |
9 |
p. 1605-1609
|
artikel
|
| 5 |
A locus of the candidate gene family for azoospermia factor (YRRM2) is polymorphic with a null allele in Japanese males
|
Nakahori, Y.
|
|
1994
|
3 |
9 |
p. 1709-1709
|
artikel
|
| 6 |
Amino acid polymorphism (Gly209Ser) in the ACADS gene
|
Kristensen, M.J.
|
|
1994
|
3 |
9 |
p. 1711-1711
|
artikel
|
| 7 |
A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy
|
Consevage, M.W.
|
|
1994
|
3 |
9 |
p. 1716-1716
|
artikel
|
| 8 |
A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa
|
Dunnill, M.G.S.
|
|
1994
|
3 |
9 |
p. 1693-1694
|
artikel
|
| 9 |
Assignment of a locus for dominantly inherited venous malformations to chromosome 9p
|
Boon, Laurence M.
|
|
1994
|
3 |
9 |
p. 1583-1587
|
artikel
|
| 10 |
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene
|
Brunner, Han G.
|
|
1994
|
3 |
9 |
p. 1561-1564
|
artikel
|
| 11 |
Author index
|
|
|
1994
|
3 |
9 |
p. 1715-1715
|
artikel
|
| 12 |
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions
|
Petrukhin, Konstantin
|
|
1994
|
3 |
9 |
p. 1647-1656
|
artikel
|
| 13 |
Deletion of the ferrochelatase gene in a patient with protoporphyria
|
Magness, Scott T.
|
|
1994
|
3 |
9 |
p. 1695-1697
|
artikel
|
| 14 |
Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians
|
Simard, Jacques
|
|
1994
|
3 |
9 |
p. 1689-1691
|
artikel
|
| 15 |
Dinucleotide repeat polymorphism at D14S542
|
Carey, M.L.
|
|
1994
|
3 |
9 |
p. 1712-1712
|
artikel
|
| 16 |
Dinucleotide repeat polymorphism in the human IL1A gene
|
Epplen, C.
|
|
1994
|
3 |
9 |
p. 1710-1710
|
artikel
|
| 17 |
Dystroglycan: brain localisation and chromosome mapping in the mouse
|
C.Górecki, Darlusz
|
|
1994
|
3 |
9 |
p. 1589-1597
|
artikel
|
| 18 |
Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene
|
Paffenholz, Ralner
|
|
1994
|
3 |
9 |
p. 1703-1704
|
artikel
|
| 19 |
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations
|
Byck, Susan
|
|
1994
|
3 |
9 |
p. 1675-1677
|
artikel
|
| 20 |
Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients
|
Stella, Alessandro
|
|
1994
|
3 |
9 |
p. 1687-1688
|
artikel
|
| 21 |
Functional characterization of the novel L108W and P186L mutations detected in the type II 3β-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia
|
Sanchez, Roclo
|
|
1994
|
3 |
9 |
p. 1639-1645
|
artikel
|
| 22 |
G/T polymorphism in CRYA2 gene
|
Ashworth, A.
|
|
1994
|
3 |
9 |
p. 1712-1712
|
artikel
|
| 23 |
HindIll RFLP in the human CD53 gene on 1p13
|
Gallego, M.I.
|
|
1994
|
3 |
9 |
p. 1711-1711
|
artikel
|
| 24 |
Identification of a de novo insertional mutation in Po in a patient with a Déjérine - Sottas syndrome (DSS) phenotype
|
Rautenstrauβ, Bernd
|
|
1994
|
3 |
9 |
p. 1701-1702
|
artikel
|
| 25 |
Identification of genes within CpG-enriched DNA from human chromosome 4p16.3
|
John, Rosallnd M.
|
|
1994
|
3 |
9 |
p. 1611-1616
|
artikel
|
| 26 |
Instructions to Authors
|
|
|
1994
|
3 |
9 |
p. 1717-1719
|
artikel
|
| 27 |
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
|
Hazan, Jamilé
|
|
1994
|
3 |
9 |
p. 1569-1573
|
artikel
|
| 28 |
Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q
|
Forsman, Kristina
|
|
1994
|
3 |
9 |
p. 1621-1625
|
artikel
|
| 29 |
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
|
Hillaire, Dominique
|
|
1994
|
3 |
9 |
p. 1657-1661
|
artikel
|
| 30 |
MIC2R: a transcribed MIC2-related sequence associated with a CpG island in the human pseudoautosomal region
|
Smith, Matthijs J.
|
|
1994
|
3 |
9 |
p. 1575-1582
|
artikel
|
| 31 |
Microsatellite repeat polymorphism at the D16S366 locus
|
Schultz, E.A.
|
|
1994
|
3 |
9 |
p. 1713-1713
|
artikel
|
| 32 |
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)
|
Bonthron, David T.
|
|
1994
|
3 |
9 |
p. 1627-1631
|
artikel
|
| 33 |
Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype
|
Okamoto, Nobuhiko
|
|
1994
|
3 |
9 |
p. 1565-1568
|
artikel
|
| 34 |
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus
|
Faà, V.
|
|
1994
|
3 |
9 |
p. 1685-1686
|
artikel
|
| 35 |
Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination
|
Sherman, Stephanie L.
|
|
1994
|
3 |
9 |
p. 1529-1535
|
artikel
|
| 36 |
Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia
|
Orimo, Hideo
|
|
1994
|
3 |
9 |
p. 1683-1684
|
artikel
|
| 37 |
Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis
|
Zhou, Jianhua
|
|
1994
|
3 |
9 |
p. 1599-1603
|
artikel
|
| 38 |
Precursor arrays for triplet repeat expansion at the fragile X locus
|
Hirst, Mark C.
|
|
1994
|
3 |
9 |
p. 1553-1560
|
artikel
|
| 39 |
p53 tagged sites from human genomic DNA
|
Tokino, Takashi
|
|
1994
|
3 |
9 |
p. 1537-1542
|
artikel
|
| 40 |
Selection of cDNAs using chromosome-specific genomic clones: application to human chromosome 13
|
de Fatima, Maria
|
|
1994
|
3 |
9 |
p. 1663-1673
|
artikel
|
| 41 |
Separation anxiety: the etiology of nondisjunction in flies and people
|
Hawley, R.Scott
|
|
1994
|
3 |
9 |
p. 1521-1528
|
artikel
|
| 42 |
Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation
|
Snow, Karen
|
|
1994
|
3 |
9 |
p. 1543-1551
|
artikel
|
| 43 |
SSC polymorphisms in interleukin genes
|
Borish, L.
|
|
1994
|
3 |
9 |
p. 1710-1710
|
artikel
|
| 44 |
The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12–q21
|
Tonin, Patricia
|
|
1994
|
3 |
9 |
p. 1679-1682
|
artikel
|
| 45 |
The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient
|
Pritchard-Jones, K.
|
|
1994
|
3 |
9 |
p. 1633-1637
|
artikel
|
| 46 |
Twelve simple repeat sequence polymorphisms on chromosomes 4, 11, 16 and 21
|
lizuka, Masayoshi
|
|
1994
|
3 |
9 |
p. 1707-1708
|
artikel
|
| 47 |
X-linked dominant Charcot — Marie — Tooth neuropathy: valine-38-methionine substitution of connexin32
|
Orth, Ulrike
|
|
1994
|
3 |
9 |
p. 1699-1700
|
artikel
|
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