| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Bg/II polymorphism in the COL4A6 gene
|
Renieri, A.
|
|
1994
|
3 |
10 |
p. 1914-1914
|
artikel
|
| 2 |
A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region
|
Gabriel, J.
|
|
1994
|
3 |
10 |
p. 1912-1912
|
artikel
|
| 3 |
A heat shock gene at 14q22: mapping and expression
|
Roux, Anne-Françoise
|
|
1994
|
3 |
10 |
p. 1819-1822
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 9 |
A transcript map of the Down syndrome critical region on chromosome 21
|
Peterson, Andrew
|
|
1994
|
3 |
10 |
p. 1735-1742
|
artikel
|
| 10 |
Author index
|
|
|
1994
|
3 |
10 |
p. 1917-1917
|
artikel
|
| 11 |
Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria
|
Fujita, Hiroyoshi
|
|
1994
|
3 |
10 |
p. 1807-1810
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 14 |
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees
|
Keating, Katherine E.
|
|
1994
|
3 |
10 |
p. 1855-1858
|
artikel
|
| 15 |
Detection of a Rsal polymorphism within the human galactokinase gene (GK2) by PCR — SSCP
|
Lau, C.C.
|
|
1994
|
3 |
10 |
p. 1916-1916
|
artikel
|
| 16 |
Dinucleotide repeat polymorphism at the NF2 gene
|
Bourn, D.
|
|
1994
|
3 |
10 |
p. 1914-1914
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 19 |
Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients
|
Stella, A.
|
|
1994
|
3 |
10 |
p. 1918-1918
|
artikel
|
| 20 |
GA repeat polymorphism at the PRM2 male fertility locus
|
Jonckheere, J. De
|
|
1994
|
3 |
10 |
p. 1915-1915
|
artikel
|
| 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
|
artikel
|
| 22 |
Haplotype analysis of MEN 2 mutations
|
Gardner, Emily
|
|
1994
|
3 |
10 |
p. 1771-1774
|
artikel
|
| 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
|
artikel
|
| 24 |
Identification of a new frameshift mutation (1801delAG) in the ALD gene
|
Barceló, A.
|
|
1994
|
3 |
10 |
p. 1889-1890
|
artikel
|
| 25 |
Identification of a novel paternally expressed gene in the Prader - Willi syndrome region
|
Wevrick, Rachel
|
|
1994
|
3 |
10 |
p. 1877-1883
|
artikel
|
| 26 |
Identification of two mutant alleles of transcobalamin II in an affected family
|
Li, Ning
|
|
1994
|
3 |
10 |
p. 1835-1840
|
artikel
|
| 27 |
Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers
|
Hentati, Afif
|
|
1994
|
3 |
10 |
p. 1867-1871
|
artikel
|
| 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
|
artikel
|
| 29 |
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)
|
Fuchs, Sigrid
|
|
1994
|
3 |
10 |
p. 1903-1905
|
artikel
|
| 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
|
artikel
|
| 31 |
Novel small mutations along the DMD/BMD gene associated with different phenotypes
|
Nigro, Vincenzo
|
|
1994
|
3 |
10 |
p. 1907-1908
|
artikel
|
| 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
|
artikel
|
| 33 |
Polymorphism of the HLA-90 new class I gene
|
Legras, C.
|
|
1994
|
3 |
10 |
p. 1916-1916
|
artikel
|
| 34 |
Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform
|
Rafael, Jill A.
|
|
1994
|
3 |
10 |
p. 1725-1733
|
artikel
|
| 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
|
artikel
|
| 36 |
RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer
|
Blaugrund, James E.
|
|
1994
|
3 |
10 |
p. 1895-1897
|
artikel
|
| 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
|
artikel
|
| 38 |
Sequence organization of the human chromosome 2q telomere
|
Macina, Roberto A.
|
|
1994
|
3 |
10 |
p. 1847-1853
|
artikel
|
| 39 |
Single nucleotide polymorphism in exon 2 of the BCP gene on 7q31 - q35
|
Jordan, S.A.
|
|
1994
|
3 |
10 |
p. 1915-1915
|
artikel
|
| 40 |
Six microsatellite polymorphisms at candidate and confirmed tumour suppressor gene loci
|
Jones, M.H.
|
|
1994
|
3 |
10 |
p. 1911-1911
|
artikel
|
| 41 |
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene
|
Frederick, Gregory D.
|
|
1994
|
3 |
10 |
p. 1783-1788
|
artikel
|
| 42 |
Tetranucleotide repeat polymorphism at the D8S492 locus
|
Ward, K.
|
|
1994
|
3 |
10 |
p. 1913-1913
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 45 |
The same polymorphism identified by the DXS571(B) and DXS1105 loci
|
Barker, D.F.
|
|
1994
|
3 |
10 |
p. 1913-1913
|
artikel
|
| 46 |
The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor
|
Green, Andrew J.
|
|
1994
|
3 |
10 |
p. 1833-1834
|
artikel
|
| 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
|
artikel
|
| 48 |
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families
|
Zhu, Qili
|
|
1994
|
3 |
10 |
p. 1899-1900
|
artikel
|
| 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
|
artikel
|
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