Volume 43; Issue 11

Main
Journal of Medical Genetics
Volume 43; Issue 11

Journal of Medical Genetics

Volume 43; Issue 11

1

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

de Blois, M-C, Jacquemont, M-L, Sanlaville, D, Redon, R, Raoul, O, Cormier-Daire, V, Lyonnet, S, Amiel, J, Le Merrer, M, Heron, D

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 471 KB

english, 2006

2

A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer

Cybulski, C, Wokolorczyk, D, Huzarski, T, Byrski, T, Gronwald, J, Gorski, B, Debniak, T, Masojc, B, Jakubowska, A, Gliniewicz, B, Sikorski, A, Stawicka, M, Godlewski, D, Kwias, Z, Antczak, A, Krajka,

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 285 KB

english, 2006

3

Polyalanine and polyserine frameshift products in Huntington's disease

Davies, J E, Rubinsztein, D C

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 763 KB

english, 2006

4

Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene

Rodriguez-Ballesteros, M, Olarte, M, Aguirre, L A, Galan, F, Galan, R, Vallejo, L A, Navas, C, Villamar, M, Moreno-Pelayo, M A, Moreno, F, del Castillo, I

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 275 KB

english, 2006

5

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency

Hinttala, R, Smeets, R, Moilanen, J S, Ugalde, C, Uusimaa, J, Smeitink, J A M, Majamaa, K

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 177 KB

english, 2006

6

The cardiofaciocutaneous syndrome

Roberts, A, Allanson, J, Jadico, S K, Kavamura, M I, Noonan, J, Opitz, J M, Young, T, Neri, G

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 1.37 MB

english, 2006

7

Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies

Karppinen, S-M, Barkardottir, R B, Backenhorn, K, Sydenham, T, Syrjakoski, K, Schleutker, J, Ikonen, T, Pylkas, K, Rapakko, K, Erkko, H, Johannesdottir, G, Gerdes, A-M, Thomassen, M, Agnarsson, B A, G

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 202 KB

english, 2006

8

A genomewide scan for quantitative trait loci underlying areal bone size variation in 451 Caucasian families

Shen, H, Long, J-R, Xiong, D-H, Guo, Y-F, Xiao, P, Liu, Y-Z, Zhao, L-J, Liu, Y-J, Deng, H-Y, Li, J-L, Recker, R R, Deng, H-W

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 482 KB

english, 2006

9

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II

Aller, E, Jaijo, T, Beneyto, M, Najera, C, Oltra, S, Ayuso, C, Baiget, M, Carballo, M, Antinolo, G, Valverde, D, Moreno, F, Vilela, C, Collado, D, Perez-Garrigues, H, Navea, A, Millan, J M

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 294 KB

english, 2006

10

Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia

Seal, J L, Gornick, M C, Gogtay, N, Shaw, P, Greenstein, D K, Coffey, M, Gochman, P A, Stromberg, T, Chen, Z, Merriman, B, Nelson, S F, Brooks, J, Arepalli, S, Wavrant-De Vrieze, F, Hardy, J, Rapoport

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 183 KB

english, 2006

11

The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children

Dahl, H-H M, Tobin, S E, Poulakis, Z, Rickards, F W, Xu, X, Gillam, L, Williams, J, Saunders, K, Cone-Wesson, B, Wake, M

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 255 KB

english, 2006

12

CDH1/E-cadherin germline mutations in early-onset gastric cancer

Bacani, J T, Soares, M, Zwingerman, R, di Nicola, N, Senz, J, Riddell, R, Huntsman, D G, Gallinger, S

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 909 KB

english, 2006

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски