Volume 13; Issue 12

European Journal of Human Genetics

Volume 13; Issue 12

1

Analysis of four neuroligin genes as candidates for autism

Ylisaukko-oja, Tero, Rehnström, Karola, Auranen, Mari, Vanhala, Raija, Alen, Reija, Kempas, Elli, Ellonen, Pekka, Turunen, Joni A, Makkonen, Ismo, Riikonen, Raili

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 169 KB

english, 2005

2

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

Tuffery-Giraud, Sylvie, Saquet, Céline, Thorel, Delphine, Disset, Antoine, Rivier, François, Malcolm, Sue, Claustres, Mireille

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 147 KB

english, 2005

3

The place of the Basques in the European Y-chromosome diversity landscape

Alonso, Santos, Flores, Carlos, Cabrera, Vicente, Alonso, Antonio, Martín, Pablo, Albarrán, Cristina, Izagirre, Neskuts, de la Rúa, Concepción, García, Oscar

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 217 KB

english, 2005

4

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

Hansen, Lars, Eiberg, Hans, Barrett, Timothy, Bek, Toke, Kjærsgaard, Per, Tranebjærg, Lisbeth, Rosenberg, Thomas

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 228 KB

english, 2005

5

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31

Malik, Sajid, Schott, Jörg, Ali, Syed Wajahat, Oeffner, Frank, Amin-ud-Din, Muhammad, Ahmad, Wasim, Grzeschik, Karl-Heinz, Koch, Manuela C

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 301 KB

english, 2005

6

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome

Peyrard-Janvid, Myriam, Pegelow, Marie, Koillinen, Hannele, Larsson, Catharina, Fransson, Ingegerd, Rautio, Jorma, Hukki, Jyri, Larson, Ola, Karsten, Agneta L-A, Kere, Juha

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 230 KB

english, 2005

7

Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes

Cotter, Philip D, Nguyen, Hieu, Tung, Gloria, Rauen, Katherine A

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 61 KB

english, 2005

8

Molecular diagnosis of human cancer type by gene expression profiles and independent component analysis

Zhang, Xue Wu, Yap, Yee Leng, Wei, Dong, Chen, Feng, Danchin, Antoine

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 112 KB

english, 2005

9

Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia

Fouchier, Sigrid W, Rodenburg, Jessica, Defesche, Joep C, Harper, P S

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 158 KB

english, 2005

10

Myotonic dystrophy-time to improve patient care and prepare for pathogenesis based treatments

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 35 KB

english, 2005

11

Complex disease: Pleiotropic gene effects in obesity and type 2 diabetes

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 51 KB

english, 2005