Volume 12; Issue 2

European Journal of Human Genetics

Volume 12; Issue 2

1

Prevalence of lysosomal storage diseases in Portugal

Pinto, Rui, Caseiro, Carla, Lemos, Manuela, Lopes, Lurdes, Fontes, Augusta, Ribeiro, Helena, Pinto, Eugénia, Silva, Elisabete, Rocha, Sónia, Marcão, Ana

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 79 KB

english, 2003

2

Ancient mtDNA analysis and the origin of the Guanches

Maca-Meyer, Nicole, Arnay, Matilde, Rando, Juan Carlos, Flores, Carlos, González, Ana M, Cabrera, Vicente M, Larruga, José M

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 130 KB

english, 2003

3

Mutations responsible for 3-phosphoserine phosphatase deficiency

Veiga-da-Cunha, Maria, Collet, Jean-François, Prieur, Benoît, Jaeken, Jaak, Peeraer, Yves, Rabbijns, Anja, Van Schaftingen, Emile

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 84 KB

english, 2003

4

Interleukin-1 gene cluster polymorphisms and susceptibility to clinical malaria in a Gambian case–control study

Walley, Andrew J, Aucan, Christophe, Kwiatkowski, Dominic, Hill, Adrian V S

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 121 KB

english, 2003

5

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder

Gootjes, Jeannette, Schmohl, Frank, Waterham, Hans R, Wanders, Ronald J A

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 107 KB

english, 2003

6

Genome-wide scanning for linkage in Finnish breast cancer families

Huusko, Pia, Juo, Suh-Hang Hank, Gillanders, Elizabeth, Sarantaus, Laura, Kainu, Tommi, Vahteristo, Pia, Allinen, Minna, Jones, MaryPat, Rapakko, Katrin, Eerola, Hannaleena

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 229 KB

english, 2003

7

Characterisation of the dysferlin skeletal muscle promoter

Foxton, R M, Laval, S H, Bushby, K M D

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 111 KB

english, 2003

8

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

Kaiser, Frank J, Brega, Paola, Raff, Michael L, Byers, Peter H, Gallati, Sabina, Kay, Teresa Taylor, de Almeida, Salomé, Horsthemke, Bernhard, Lüdecke, Hermann-Josef

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 167 KB

english, 2003

9

Familial Mediterranean fever seems to be not uncommon in Greece

Konstantopoulos, Kostas, Kanta, Alexandra

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 41 KB

english, 2003

10

In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons

Kaufmann, Dieter, Kenner, Oliver, Nurnberg, Peter, Vogel, Walther, Bartelt, Britta

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 212 KB

english, 2003

11

Transmission disequilibrium test (TDT) for case–control studies

Ruiz-Narváez, Edward A, Campos, Hannia

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 281 KB

english, 2004

12

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient

Regis, Stefano, Corsolini, Fabio, Ricci, Verena, Di Duca, Marco, Filocamo, Mirella

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 94 KB

english, 2003

13

Confidentiality and serious harm in genetics – preserving the confidentiality of one patient and preventing harm to relatives

Lucassen, Anneke, Parker, Michael

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 74 KB

english, 2003

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