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34 results found

no	title	author	magazine	year	volume	issue	page(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	article
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	article
3	A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3	Lesperance, Marci M.		1995	4	10	p. 1967-1972	article
4	A gene for ulnar–mammary syndrome maps to 1 2q23–q24.1	Bamshad, M.		1995	4	10	p. 1973-1977	article
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	article
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	article
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	article
8	Author index			1995	4	10	p. 2005-2005	article
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	article
10	Conservation of a maternal-specific methylation signal at the human IGF2R locus	Smrzka, Oskar W.		1995	4	10	p. 1945-1952	article
11	Detection of BRCA1 mutations by the protein truncation test	Plummer, Sarah J.		1995	4	10	p. 1989-1991	article
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	article
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	article
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	article
15	Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy	Klauck, Sabine M.		1995	4	10	p. 1853-1857	article
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	article
17	Intragenic mutations of CDKN2B and CDKN2A in primary human esophageal cancers	Suzuki, Hiroyuki		1995	4	10	p. 1883-1887	article
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	article
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	article
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	article
21	Molecular defects in Krabbe disease	Tatsumi, Naoko		1995	4	10	p. 1865-1868	article
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	article
23	Mutation analysis of the ROM1 gene in retinitis pigmentosa	Bascom, Roger A.		1995	4	10	p. 1895-1902	article
24	Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds	Walker, Graeme		1995	4	10	p. 1845-1852	article
25	New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105	Raha-Chowdhury, Ruma		1995	4	10	p. 1869-1874	article
26	Novel mutations and inactivation of both alleles of the APC gene in desmoid tumors	Paimirotta, Raffaele		1995	4	10	p. 1979-1981	article
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	article
28	Quantitative DNA fiber mapping	Weler, H-U.G.		1995	4	10	p. 1903-1910	article
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	article
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	article
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	article
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	article
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	article
34	Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum	Satokata, Ichiro		1995	4	10	p. 1993-1994	article

34 results found

Koninklijke Bibliotheek - National Library of the Netherlands