Digitale Bibliotheek
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                             11 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA Skordis, Leigh
2001
108 4 p. 356-357
artikel
2 Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling Le Maréchal, C.
2001
108 4 p. 290-298
artikel
3 Haplotype analysis of genomic polymorphisms in and around the myotonic dystrophy locus in diverse populations of India Basu, Priyadarshi
2001
108 4 p. 310-317
artikel
4 Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression Uimonen, Seija
2001
108 4 p. 284-289
artikel
5 Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria Sakamoto, Norikazu
2001
108 4 p. 279-283
artikel
6 Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis Knight, Stuart
2001
108 4 p. 299-303
artikel
7 Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4) Yatsenko, Alexander
2001
108 4 p. 346-355
artikel
8 Linkage of prostate cancer susceptibility loci to chromosome 1 Xu, Jianfeng
2001
108 4 p. 335-345
artikel
9 Mutation analysis of the origin recognition complex subunit 5 (ORC5L) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22 Fröhling, Stefan
2001
108 4 p. 304-309
artikel
10 Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories Waters, Jonathan
2001
108 4 p. 318-327
artikel
11 Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa Bareil, Corinne
2001
108 4 p. 328-334
artikel
                             11 gevonden resultaten
 
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