| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein
|
Shoulders, Carol C.
|
|
1993
|
2 |
12 |
p. 2109-2116
|
artikel
|
| 2 |
A 14 bp deletion polymorphism in the HLA-G gene
|
Harrison, G.A.
|
|
1993
|
2 |
12 |
p. 2200-2200
|
artikel
|
| 3 |
A BstNI polymorphism at the BTK locus in Xq21.3 – Xq22
|
Hagemann, T.
|
|
1993
|
2 |
12 |
p. 2201-2201
|
artikel
|
| 4 |
A CA-repeat polymorphism near DXS418 (P122)
|
De Vosse, E.Van
|
|
1993
|
2 |
12 |
p. 2202-2202
|
artikel
|
| 5 |
A de novo mutation in exon 28 of the von Willebrand factor gene in a patient with type IIA von Willebrand's disease coincides with an Mbol polymorphism in the von Willebrand factor pseudogene
|
Pérez-Casal, Margarita
|
|
1993
|
2 |
12 |
p. 2159-2161
|
artikel
|
| 6 |
A G to T mutation at a splice site in a case of Pelizaeus—Merzbacher disease
|
Strautnleks, Sandra
|
|
1993
|
2 |
12 |
p. 2191-2192
|
artikel
|
| 7 |
A homozygous deletion of 27 basepairs in the coding region of the human outer dense fiber protein gene does not result in a pathologic phenotype
|
Hofferbert, Sigrun
|
|
1993
|
2 |
12 |
p. 2167-2170
|
artikel
|
| 8 |
A large alteration in the human platelet glycoprotein Illa (integrin β3) gene associated with Glanzmann's thrombasthenia
|
Djaffar, Isabelle
|
|
1993
|
2 |
12 |
p. 2183-2185
|
artikel
|
| 9 |
A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites
|
Beckmann, Jacques S.
|
|
1993
|
2 |
12 |
p. 2019-2030
|
artikel
|
| 10 |
Alternatively sized duplication in Charcot — Marie — Tooth disease type 1A
|
Valentijn, Linda J.
|
|
1993
|
2 |
12 |
p. 2143-2146
|
artikel
|
| 11 |
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis
|
Rothnagel, Joseph A.
|
|
1993
|
2 |
12 |
p. 2147-2150
|
artikel
|
| 12 |
A new point mutation associated with mitochondrial encephalomyopathy
|
Morten, K.J.
|
|
1993
|
2 |
12 |
p. 2081-2087
|
artikel
|
| 13 |
A novel glycine to glutamic acid substitution at position 343 in the α2 chain of type I collagen in an individual with lethal osteogenesis imperfecta
|
Rose, Nicola J.
|
|
1993
|
2 |
12 |
p. 2175-2177
|
artikel
|
| 14 |
A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus — Merzbacher disease
|
Kurosawa, Kenjl
|
|
1993
|
2 |
12 |
p. 2187-2189
|
artikel
|
| 15 |
A novel sequence polymorphism in exon 1 of the human vitamin D-binding protein (GC) gene
|
Braun, A.
|
|
1993
|
2 |
12 |
p. 2214-2214
|
artikel
|
| 16 |
An SspI polymorphism for the human DOPA decarboxylase (DDC) gene on chromosome 7p
|
Wang, Zhewu
|
|
1993
|
2 |
12 |
p. 2198-2198
|
artikel
|
| 17 |
A second case of variant of Glanzmann's thrombasthenia due to substitution of platelet GPIII (integrinβ3) Arg214 by Trp
|
Djaffar, Isabelle
|
|
1993
|
2 |
12 |
p. 2179-2180
|
artikel
|
| 18 |
Author index
|
|
|
1993
|
2 |
12 |
p. 2213-2214
|
artikel
|
| 19 |
Author index
|
|
|
1993
|
2 |
12 |
p. 2225-2233
|
artikel
|
| 20 |
CA-repeat polymorphism at the D22S430 locus adjacent to NF2
|
Sainz, Jesús
|
|
1993
|
2 |
12 |
p. 2203-2203
|
artikel
|
| 21 |
Characterization and localization of the Huntington disease gene product
|
Hoogeveen, André T.
|
|
1993
|
2 |
12 |
p. 2069-2073
|
artikel
|
| 22 |
Characterization of a methylation imprint in the Prader — Willi syndrome chromosome region
|
Dittrich, Bärbel
|
|
1993
|
2 |
12 |
p. 1995-1999
|
artikel
|
| 23 |
Deletion breakpoints in a 32 bp perfect repeat located 45.1 Kb apart in the human growth hormone gene cluster
|
Baroncini, C.
|
|
1993
|
2 |
12 |
p. 2151-2153
|
artikel
|
| 24 |
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22
|
Pook, Mark A.
|
|
1993
|
2 |
12 |
p. 2129-2134
|
artikel
|
| 25 |
Dinucleotide repeat at the D15S129 locus
|
Richard, Isabelle
|
|
1993
|
2 |
12 |
p. 2199-2199
|
artikel
|
| 26 |
Dinucleotide repeat polymorphism at the GLUDP2 locus
|
Goulielmos, G.
|
|
1993
|
2 |
12 |
p. 2202-2202
|
artikel
|
| 27 |
Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus
|
Larget-Piet, D.
|
|
1993
|
2 |
12 |
p. 2201-2201
|
artikel
|
| 28 |
Dinucleotide repeat polymorphism at the locus D15S222
|
Fougerousse, Francoise
|
|
1993
|
2 |
12 |
p. 2200-2200
|
artikel
|
| 29 |
Dinucleotide repeat polymorphism at the PI locus
|
Worthington, J.
|
|
1993
|
2 |
12 |
p. 2203-2203
|
artikel
|
| 30 |
Dinucleotide repeat polymorphism in the 3′ non-coding region of the FLTI gene
|
Han, Hye-Jung
|
|
1993
|
2 |
12 |
p. 2204-2204
|
artikel
|
| 31 |
DXS997 localized to intron 48 of dystrophin
|
Saad, Fawzy A.
|
|
1993
|
2 |
12 |
p. 2199-2199
|
artikel
|
| 32 |
Dystrophin expression improves myofiber survival in mdx muscle following intramuscular plasmid DNA injection
|
Danko, Istvan
|
|
1993
|
2 |
12 |
p. 2055-2061
|
artikel
|
| 33 |
Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad
|
Bächner, Dletmar
|
|
1993
|
2 |
12 |
p. 2043-2050
|
artikel
|
| 34 |
Four dinucleotide repeat polymorphisms at the D7S804 locus
|
Graeber, Manuel B.
|
|
1993
|
2 |
12 |
p. 2195-2195
|
artikel
|
| 35 |
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
|
Deutekom, Judith C.T.Van
|
|
1993
|
2 |
12 |
p. 2037-2042
|
artikel
|
| 36 |
Functional imprinting and epigenetic modification of the human SNRPN gene
|
Glenn, Christopher C.
|
|
1993
|
2 |
12 |
p. 2001-2005
|
artikel
|
| 37 |
G to A polymorphism in the CACNLG gene
|
Dickers, Antonel
|
|
1993
|
2 |
12 |
p. 2198-2198
|
artikel
|
| 38 |
Heterozygous ‘null allele’ mutation in the human peripherin/RDS gene
|
Meins, M.
|
|
1993
|
2 |
12 |
p. 2181-2182
|
artikel
|
| 39 |
Human insulin-like growth factor type I and type II receptors are not imprinted
|
Ogawa, Osamu
|
|
1993
|
2 |
12 |
p. 2163-2165
|
artikel
|
| 40 |
Identification of a new splice site mutation (3849 +1G←A) in the intron 19 of the CFTR gene
|
Grell, Ignaz
|
|
1993
|
2 |
12 |
p. 2171-2172
|
artikel
|
| 41 |
In frame deletion (ΔF311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene
|
Meitinger, Thomas
|
|
1993
|
2 |
12 |
p. 2173-2174
|
artikel
|
| 42 |
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease
|
Halford, Stephanle
|
|
1993
|
2 |
12 |
p. 2099-2107
|
artikel
|
| 43 |
Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome
|
Aoyama, T.
|
|
1993
|
2 |
12 |
p. 2135-2140
|
artikel
|
| 44 |
Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients
|
Barth, Maria Lulza
|
|
1993
|
2 |
12 |
p. 2117-2121
|
artikel
|
| 45 |
Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene
|
Zühlke, Christine
|
|
1993
|
2 |
12 |
p. 2063-2067
|
artikel
|
| 46 |
Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene
|
Bulting, Karin
|
|
1993
|
2 |
12 |
p. 1991-1994
|
artikel
|
| 47 |
Mutations in the PAX6 gene in patients with hereditary aniridia
|
Davis, Alison
|
|
1993
|
2 |
12 |
p. 2093-2097
|
artikel
|
| 48 |
New human DNA polymorphisms submitted to the genome data base
|
|
|
1993
|
2 |
12 |
p. 2207-2211
|
artikel
|
| 49 |
Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis
|
Palau, Francisco
|
|
1993
|
2 |
12 |
p. 2031-2035
|
artikel
|
| 50 |
PCR detection of 9 polymorphisms in the WT1 gene
|
Tadokoro, Keiko
|
|
1993
|
2 |
12 |
p. 2205-2206
|
artikel
|
| 51 |
PCR detection of the TaqA RFLP at the DRD2 locus
|
Grandy, D.K.
|
|
1993
|
2 |
12 |
p. 2197-2197
|
artikel
|
| 52 |
Polymorphism in the human dopamine D4 receptor gene (DRD4) in Japanese detected by PCR
|
Inoue, Akira
|
|
1993
|
2 |
12 |
p. 2197-2197
|
artikel
|
| 53 |
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias
|
Matilla, T.
|
|
1993
|
2 |
12 |
p. 2123-2128
|
artikel
|
| 54 |
Rapid screening for Tp53 mutations by temperature gradient gel electrophoresis: a comparison with SSCP analysis
|
B.Scholz, Roswitha
|
|
1993
|
2 |
12 |
p. 2155-2158
|
artikel
|
| 55 |
Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals
|
Fonknechten, Nuria
|
|
1993
|
2 |
12 |
p. 2141-2142
|
artikel
|
| 56 |
SOX3 is an X-linked gene related to SRY
|
Stevanovlć, Milena
|
|
1993
|
2 |
12 |
p. 2013-2018
|
artikel
|
| 57 |
Subject Index
|
|
|
1993
|
2 |
12 |
p. 2215-2224
|
artikel
|
| 58 |
The gene for Darier's desease maps to chromosome 12q23–q24.1
|
Craddock, N.
|
|
1993
|
2 |
12 |
p. 2214-2214
|
artikel
|
| 59 |
The human homolog of a candidate mouse t complex responder gene: conserved motifs and evolution with punctuated equilibria
|
Islam, Salim D.
|
|
1993
|
2 |
12 |
p. 2075-2079
|
artikel
|
| 60 |
The human SRY transcript
|
Clepet, Christian
|
|
1993
|
2 |
12 |
p. 2007-2012
|
artikel
|
| 61 |
The insulin-like growth factor 1 receptor gene is normally biallelically expressed in human juvenile tissue and tumours
|
Howard, Tammy K.
|
|
1993
|
2 |
12 |
p. 2089-2092
|
artikel
|
| 62 |
The major peripheral myelin protein zero gene: structure and localization in the cluster of Fcγ receptor genes on human chromosome 1q21.3 – q23
|
Pham-Dinh, Danielle
|
|
1993
|
2 |
12 |
p. 2051-2054
|
artikel
|
| 63 |
Thirteen dinucleotide repeat polymorphisms on chromosome 6
|
Orphanos, Vassilis
|
|
1993
|
2 |
12 |
p. 2196-2196
|
artikel
|
| 64 |
Twenty different alleles at the locus D5S683 on 5q23–31
|
Schönling, Jutta
|
|
1993
|
2 |
12 |
p. 2204-2204
|
artikel
|
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