| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps
|
Sheffield, Val. C.
|
|
1995
|
4 |
10 |
p. 1837-1844
|
artikel
|
| 2 |
A deletion hot-spot in exon 7 of the G8α gene (GNAS1) in patients with Aibright hereditary osteodystrophy
|
Yu, Shuhua
|
|
1995
|
4 |
10 |
p. 2001-2002
|
artikel
|
| 3 |
A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3
|
Lesperance, Marci M.
|
|
1995
|
4 |
10 |
p. 1967-1972
|
artikel
|
| 4 |
A gene for ulnar–mammary syndrome maps to 1 2q23–q24.1
|
Bamshad, M.
|
|
1995
|
4 |
10 |
p. 1973-1977
|
artikel
|
| 5 |
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart
|
Fuentes, Juan-José
|
|
1995
|
4 |
10 |
p. 1935-1944
|
artikel
|
| 6 |
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3
|
Ferrero, Glovanni B.
|
|
1995
|
4 |
10 |
p. 1821-1827
|
artikel
|
| 7 |
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat
|
Boucher, C.A.
|
|
1995
|
4 |
10 |
p. 1919-1925
|
artikel
|
| 8 |
Author index
|
|
|
1995
|
4 |
10 |
p. 2005-2005
|
artikel
|
| 9 |
CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset
|
Morris, A.G.
|
|
1995
|
4 |
10 |
p. 1957-1961
|
artikel
|
| 10 |
Conservation of a maternal-specific methylation signal at the human IGF2R locus
|
Smrzka, Oskar W.
|
|
1995
|
4 |
10 |
p. 1945-1952
|
artikel
|
| 11 |
Detection of BRCA1 mutations by the protein truncation test
|
Plummer, Sarah J.
|
|
1995
|
4 |
10 |
p. 1989-1991
|
artikel
|
| 12 |
Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to val in Linker 12 domin of keratin 5
|
Matsuki, Masato
|
|
1995
|
4 |
10 |
p. 1999-2000
|
artikel
|
| 13 |
Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia
|
Hwu, W.-L.
|
|
1995
|
4 |
10 |
p. 2006-2006
|
artikel
|
| 14 |
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
|
Blone, Silvia
|
|
1995
|
4 |
10 |
p. 1859-1863
|
artikel
|
| 15 |
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
|
Klauck, Sabine M.
|
|
1995
|
4 |
10 |
p. 1853-1857
|
artikel
|
| 16 |
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
|
Goldberg, Y.Paul
|
|
1995
|
4 |
10 |
p. 1911-1918
|
artikel
|
| 17 |
Intragenic mutations of CDKN2B and CDKN2A in primary human esophageal cancers
|
Suzuki, Hiroyuki
|
|
1995
|
4 |
10 |
p. 1883-1887
|
artikel
|
| 18 |
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family
|
Nadal, Nathalie
|
|
1995
|
4 |
10 |
p. 1963-1966
|
artikel
|
| 19 |
Microsatellite instability at a single locus (D11S988) on chromosome 11p15.5 as a late event in mammary tumorigenesis
|
Karnik, Pratima
|
|
1995
|
4 |
10 |
p. 1889-1894
|
artikel
|
| 20 |
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals
|
Hahnen, Eric
|
|
1995
|
4 |
10 |
p. 1927-1933
|
artikel
|
| 21 |
Molecular defects in Krabbe disease
|
Tatsumi, Naoko
|
|
1995
|
4 |
10 |
p. 1865-1868
|
artikel
|
| 22 |
Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation
|
Matsushima, Mieko
|
|
1995
|
4 |
10 |
p. 1953-1956
|
artikel
|
| 23 |
Mutation analysis of the ROM1 gene in retinitis pigmentosa
|
Bascom, Roger A.
|
|
1995
|
4 |
10 |
p. 1895-1902
|
artikel
|
| 24 |
Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds
|
Walker, Graeme
|
|
1995
|
4 |
10 |
p. 1845-1852
|
artikel
|
| 25 |
New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105
|
Raha-Chowdhury, Ruma
|
|
1995
|
4 |
10 |
p. 1869-1874
|
artikel
|
| 26 |
Novel mutations and inactivation of both alleles of the APC gene in desmoid tumors
|
Paimirotta, Raffaele
|
|
1995
|
4 |
10 |
p. 1979-1981
|
artikel
|
| 27 |
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
|
Shamsher, M.K.
|
|
1995
|
4 |
10 |
p. 1875-1881
|
artikel
|
| 28 |
Quantitative DNA fiber mapping
|
Weler, H-U.G.
|
|
1995
|
4 |
10 |
p. 1903-1910
|
artikel
|
| 29 |
Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype
|
Kwan, Sau-Plng
|
|
1995
|
4 |
10 |
p. 1995-1998
|
artikel
|
| 30 |
Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function
|
McAllister, Kimberly A.
|
|
1995
|
4 |
10 |
p. 1983-1985
|
artikel
|
| 31 |
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function
|
Nigro, Vincenzo
|
|
1995
|
4 |
10 |
p. 2003-2004
|
artikel
|
| 32 |
Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers
|
Gastier, Julie M.
|
|
1995
|
4 |
10 |
p. 1829-1836
|
artikel
|
| 33 |
Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B
|
Kitamura, Yutaka
|
|
1995
|
4 |
10 |
p. 1987-1988
|
artikel
|
| 34 |
Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum
|
Satokata, Ichiro
|
|
1995
|
4 |
10 |
p. 1993-1994
|
artikel
|
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