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                             49 results found
no title author magazine year volume issue page(s) type
1 A Bg/II polymorphism in the COL4A6 gene Renieri, A.
1994
3 10 p. 1914-1914
article
2 A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region Gabriel, J.
1994
3 10 p. 1912-1912
article
3 A heat shock gene at 14q22: mapping and expression Roux, Anne-Françoise
1994
3 10 p. 1819-1822
article
4 A high resolution physical map of 2.5 Mbp of the Down syndrome region on chromosome 21 Patil, Nila
1994
3 10 p. 1811-1817
article
5 Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia Winterpacht, Andreas
1994
3 10 p. 1891-1893
article
6 A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa Baudoin, Christian
1994
3 10 p. 1909-1910
article
7 A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patient Balassopoulou, Angeliki
1994
3 10 p. 1887-1888
article
8 A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene Vincent, Christophe
1994
3 10 p. 1859-1866
article
9 A transcript map of the Down syndrome critical region on chromosome 21 Peterson, Andrew
1994
3 10 p. 1735-1742
article
10 Author index 1994
3 10 p. 1917-1917
article
11 Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria Fujita, Hiroyoshi
1994
3 10 p. 1807-1810
article
12 Characterization of a cystathionine β-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria Marble, Michael
1994
3 10 p. 1883-1886
article
13 Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion Poulton, J.
1994
3 10 p. 1763-1769
article
14 Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees Keating, Katherine E.
1994
3 10 p. 1855-1858
article
15 Detection of a Rsal polymorphism within the human galactokinase gene (GK2) by PCR — SSCP Lau, C.C.
1994
3 10 p. 1916-1916
article
16 Dinucleotide repeat polymorphism at the NF2 gene Bourn, D.
1994
3 10 p. 1914-1914
article
17 Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo Lutz, Beat
1994
3 10 p. 1717-1723
article
18 Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene Eng, Christine M.
1994
3 10 p. 1795-1799
article
19 Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients Stella, A.
1994
3 10 p. 1918-1918
article
20 GA repeat polymorphism at the PRM2 male fertility locus Jonckheere, J. De
1994
3 10 p. 1915-1915
article
21 Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia Hagemann, Tracy L.
1994
3 10 p. 1743-1749
article
22 Haplotype analysis of MEN 2 mutations Gardner, Emily
1994
3 10 p. 1771-1774
article
23 High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q Bengtsson, Ulla
1994
3 10 p. 1801-1805
article
24 Identification of a new frameshift mutation (1801delAG) in the ALD gene Barceló, A.
1994
3 10 p. 1889-1890
article
25 Identification of a novel paternally expressed gene in the Prader - Willi syndrome region Wevrick, Rachel
1994
3 10 p. 1877-1883
article
26 Identification of two mutant alleles of transcobalamin II in an affected family Li, Ning
1994
3 10 p. 1835-1840
article
27 Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers Hentati, Afif
1994
3 10 p. 1867-1871
article
28 Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes Ouweland, Ans M.W. van den
1994
3 10 p. 1823-1827
article
29 Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD) Fuchs, Sigrid
1994
3 10 p. 1903-1905
article
30 MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p Ueki, Keisuke
1994
3 10 p. 1841-1845
article
31 Novel small mutations along the DMD/BMD gene associated with different phenotypes Nigro, Vincenzo
1994
3 10 p. 1907-1908
article
32 Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17 Carey, Adam H.
1994
3 10 p. 1873-1876
article
33 Polymorphism of the HLA-90 new class I gene Legras, C.
1994
3 10 p. 1916-1916
article
34 Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform Rafael, Jill A.
1994
3 10 p. 1725-1733
article
35 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene Carbonara, Caterina
1994
3 10 p. 1829-1832
article
36 RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer Blaugrund, James E.
1994
3 10 p. 1895-1897
article
37 Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase Conley, Mary Ellen
1994
3 10 p. 1751-1756
article
38 Sequence organization of the human chromosome 2q telomere Macina, Roberto A.
1994
3 10 p. 1847-1853
article
39 Single nucleotide polymorphism in exon 2 of the BCP gene on 7q31 - q35 Jordan, S.A.
1994
3 10 p. 1915-1915
article
40 Six microsatellite polymorphisms at candidate and confirmed tumour suppressor gene loci Jones, M.H.
1994
3 10 p. 1911-1911
article
41 Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene Frederick, Gregory D.
1994
3 10 p. 1783-1788
article
42 Tetranucleotide repeat polymorphism at the D8S492 locus Ward, K.
1994
3 10 p. 1913-1913
article
43 The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13 Lind, Lisbet
1994
3 10 p. 1789-1793
article
44 The phospholipase C β3 gene located in the MEN1 region shows loss of expression in endocrine tumours Weber, Günther
1994
3 10 p. 1775-1781
article
45 The same polymorphism identified by the DXS571(B) and DXS1105 loci Barker, D.F.
1994
3 10 p. 1913-1913
article
46 The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor Green, Andrew J.
1994
3 10 p. 1833-1834
article
47 Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV Richards, Allan J.
1994
3 10 p. 1901-1902
article
48 Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families Zhu, Qili
1994
3 10 p. 1899-1900
article
49 Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis Figlewicz, Denise A.
1994
3 10 p. 1757-1761
article
                             49 results found
 
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