Digitale Bibliotheek
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                             30 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('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
artikel
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
artikel
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
artikel
4 Author index 1995
4 4 p. 781-782
artikel
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
artikel
6 Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene Schrick, Jeffrey J.
1995
4 4 p. 559-567
artikel
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
artikel
8 Complex disease genetics gets more complex 1995
4 4 p. 499-500
artikel
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
artikel
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
artikel
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
artikel
12 Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level Kozich, Viktor
1995
4 4 p. 623-629
artikel
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
artikel
14 Identification of Btk mutations in 20 unrelated patients with X-Iinked agammaglobulinaemia (XLA) Jin, Hong
1995
4 4 p. 693-700
artikel
15 Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis Pignatti, Pier Franco
1995
4 4 p. 635-639
artikel
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
artikel
17 Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3 Yamakawa, Kazuhiro
1995
4 4 p. 709-716
artikel
18 Localization of craniosynostosis Adelaide type to 4p16 Hollway, Georgina E.
1995
4 4 p. 681-683
artikel
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
artikel
20 Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients Tomatsu, Shunji
1995
4 4 p. 741-743
artikel
21 Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation Wang, Jianzhou
1995
4 4 p. 599-606
artikel
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
artikel
23 Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome Wang, Mei
1995
4 4 p. 607-613
artikel
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
artikel
25 Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA) Ueno, Shu-ichi
1995
4 4 p. 663-666
artikel
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
artikel
27 Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion Peral, Belén
1995
4 4 p. 569-574
artikel
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
artikel
29 Ultra-sensitive FISH using peroxidase-mediated deposition of biotin- or fluorochrome tyramides Raap, A.K.
1995
4 4 p. 529-534
artikel
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
artikel
                             30 gevonden resultaten
 
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