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30 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat	Burn, Timothy C.		1995	4	4	p. 575-582	article
2	A novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency	Katsumata, Noriyuki		1995	4	4	p. 745-746	article
3	A point mutation in exon 2 of the CD4O ligand gene causes the simultaneous expression of two defective mRNA species in X-linked hyperimmunoglobulinemia M	Ramesh, Narayanaswamy		1995	4	4	p. 759-761	article
4	Author index			1995	4	4	p. 781-782	article
5	Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene	Purandare, Smita M.		1995	4	4	p. 767-768	article
6	Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene	Schrick, Jeffrey J.		1995	4	4	p. 559-567	article
7	Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity	Demczuk, S.		1995	4	4	p. 551-558	article
8	Complex disease genetics gets more complex			1995	4	4	p. 499-500	article
9	Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy	Rodrigues, N.R.		1995	4	4	p. 631-634	article
10	Evidence for two tumour suppressor loci on chromosomal bands 1p35–36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification	Caron, Huib		1995	4	4	p. 535-539	article
11	Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport	Bächner, Dietmar		1995	4	4	p. 701-708	article
12	Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level	Kozich, Viktor		1995	4	4	p. 623-629	article
13	Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2	Budarf, Marcia L.		1995	4	4	p. 763-766	article
14	Identification of Btk mutations in 20 unrelated patients with X-Iinked agammaglobulinaemia (XLA)	Jin, Hong		1995	4	4	p. 693-700	article
15	Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis	Pignatti, Pier Franco		1995	4	4	p. 635-639	article
16	Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome	Bondeson, Maire-Louise		1995	4	4	p. 615-621	article
17	Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3	Yamakawa, Kazuhiro		1995	4	4	p. 709-716	article
18	Localization of craniosynostosis Adelaide type to 4p16	Hollway, Georgina E.		1995	4	4	p. 681-683	article
19	Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12	Morris, A.A.M.		1995	4	4	p. 747-749	article
20	Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients	Tomatsu, Shunji		1995	4	4	p. 741-743	article
21	Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation	Wang, Jianzhou		1995	4	4	p. 599-606	article
22	Rapid isolation and characterization of 118 novel C2H2-type zinc finger cDNAs expressed in human brain	Becker, Kavin G.		1995	4	4	p. 685-691	article
23	Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome	Wang, Mei		1995	4	4	p. 607-613	article
24	Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347	Macke, Jennifer P.		1995	4	4	p. 775-776	article
25	Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)	Ueno, Shu-ichi		1995	4	4	p. 663-666	article
26	Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome	Knebelmann, Bertrand		1995	4	4	p. 675-679	article
27	Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion	Peral, Belén		1995	4	4	p. 569-574	article
28	Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22	Miller, Andrew P.		1995	4	4	p. 731-739	article
29	Ultra-sensitive FISH using peroxidase-mediated deposition of biotin- or fluorochrome tyramides	Raap, A.K.		1995	4	4	p. 529-534	article
30	Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome	Zhang, Chunfang		1995	4	4	p. 751-754	article

30 results found

Koninklijke Bibliotheek - National Library of the Netherlands