Volume 7; Issue 1

European Journal of Human Genetics

Volume 7; Issue 1

1

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)

Abidi, Fatima, Jacquot, Sylvie, Lassiter, Christopher, Trivier, Elizabeth, Hanauer, André, Schwartz, Charles E

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 199 KB

english, 1999

2

Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome

El Ghouzzi, Vincent, Lajeunie, Elisabeth, Le Merrer, Martine, Cormier-Daire, Valérie, Renier, Dominique, Munnich, Arnold, Bonaventure, Jacky

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 372 KB

english, 1999

3

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

Weber, Birgit, Guo, Xiao-Hui, Kleijer, Wim J, van de Kamp, Jacques JP, Poorthuis, Ben JHM, Hopwood, John J

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 190 KB

english, 1999

4

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

Marquet, Sandrine, Abel, Laurent, Hillaire, Dominique, Dessein, Alain

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 236 KB

english, 1999

5

An integrated map of chromosome 18 CAG trinucleotide repeat loci

Grierson, Andy J, van Groenigen, Marjon, Groot, Nancy PB, Lindblad, Kerstin, Hoovers, Jan MN, Schalling, Martin, de Belleroche, Jackie, Baas, Frank

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 116 KB

english, 1999

6

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene

Verhoeven, Kristien, Ensink, Robbert JH, Tiranti, Valeria, Huygen, Patrick LM, Johnson, David F, Schatteman, Isabelle, Van Laer, Lut, Verstreken, Margriet, Van de Heyning, Paul, Fischel-Ghodsian, Nath

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 145 KB

english, 1999

7

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

Wijker, M, Morgan, N V, Herterich, S, van Berkel, C G M, Tipping, A J, Gross, H J, Gille, J J P, Pals, G, Savino, M, Altay, C

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 125 KB

english, 1999

8

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

Silahtaroglu, Asli, Hol, Frans A, Jensen, Peter KA, Erdel, Martin, Duba, Hans-Christoph, Geurds, Monique PA, Knoers, Nine VAM, Mariman, Edwin CM, Tümer, Zeynep, Utermann, Gerd

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 390 KB

english, 1999

9

New strategy for multi-colour fluorescence in situ hybridisation: COBRA: COmbined Binary RAtio labelling

Tanke, H J, Wiegant, J, van Gijlswijk, R P M, Bezrookove, V, Pattenier, H, Heetebrij, R J, Talman, E G, Raap, A K, Vrolijk, J

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 437 KB

english, 1999

10

Lamellar Ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus

Parmentier, L, Clepet, C, Boughdene-Stambouli, O, Lakhdar, H, Blanchet-Bardon, C, Dubertret, L, Wunderle, E, Pulcini, F, Fizames, C, Weissenbach, J

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 314 KB

english, 1999

11

Spectrum of mutations in fucosidosis

Willems, Patrick J, Seo, Hee-Chan, Coucke, Paul, Tonlorenzi, Rossana, O'Brien, John S

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 128 KB

english, 1999

12

First International SNP Meeting at Skokloster, Sweden, August 1998. Enthusiasm mixed with scepticism about single-nucleotide polymorphism markers for dissecting complex disorders

Syvånen, Ann-Christine, Landegren, Ulf, Isaksson, Anders, Gyllensten, Ulf, Brookes, Anthony

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 37 KB

english, 1999

13

Errata

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 45 KB

english, 1999

14

Further growth in 1999

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 18 KB

english, 1999

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