Volume 14; Issue 9

European Journal of Human Genetics

Volume 14; Issue 9

1

Rubinstein–Taybi syndrome

Hennekam, Raoul C M

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 142 KB

english, 2006

2

Rapid genotyping of common deficient thiopurine S-methyltransferase alleles using the DNA-microchip technique

Nasedkina, Tatyana V, Fedorova, Olga E, Glotov, Andrei S, Chupova, Natalia V, Samochatova, Elena V, Maiorova, Olga A, Zemlyakova, Valeria V, Roudneva, Anastasia E, Chudinov, Alexander V, Yurasov, Roma

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 228 KB

english, 2006

3

Covariate-based linkage analysis: application of a propensity score as the single covariate consistently improves power to detect linkage

Doan, Betty Q, Sorant, Alexa J M, Frangakis, Constantine E, Bailey-Wilson, Joan E, Shugart, Yin Y

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 180 KB

english, 2006

4

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2

Slavotinek, Anne M, Moshrefi, Ali, Davis, Randy, Leeth, Elizabeth, Schaeffer, G Bradley, Burchard, González Esteban, Shaw, Gary M, James, Bristow, Ptacek, Louis, Pennacchio, Len A

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

5

Skin Cancer: Basal cell carcinoma: genetic homogeneity in a tumour type displaying phenotypic diversity

Hoban, Paul R, Lear, John T, Strange, Richard C

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 56 KB

english, 2006

6

Pigmentary Diversity: Identifying the genes causing human diversity

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 57 KB

english, 2006

7

Segregation ratio in cranio-cerebello-cardiac syndrome

Stellingwerff, Harm-Jan, van Hagen, Johanna M, ten Kate, Leo P

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 69 KB

english, 2006

8

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation

Saugier-Veber, Pascale, Goldenberg, Alice, Drouin-Garraud, Valérie, de La Rochebrochard, Céline, Layet, Valérie, Drouot, Nathalie, Le Meur, Nathalie, Gilbert-Du-ssardier, Brigitte, Joly-Hélas, Géraldi

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 326 KB

english, 2006

9

ADAM33 haplotypes are associated with asthma in a large Australian population

Kedda, Mary-Anne, Duffy, David L, Bradley, Bernadette, O’Hehir, Robyn E, Thompson, Philip J

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 130 KB

english, 2006

10

A summary statistic approach to sequence variation in noncoding regions of six schizophrenia-associated gene loci

Winantea, Jane, Hoang, My Ngo, Ohlraun, Stefanie, Rietschel, Marcella, Cichon, Sven, Propping, Peter, Nöthen, Markus M, Freudenberg, Jan, Freudenberg-Hua, Yun

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 125 KB

english, 2006

11

2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 35 KB

english, 2006

12

The effective size of the Icelandic population and the prospects for LD mapping: inference from unphased microsatellite markers

Bataillon, Thomas, Mailund, Thomas, Thorlacius, Steinunn, Steingrimsson, Eirikur, Rafnar, Thorunn, Halldorsson, Magnus M, Calian, Violeta, Schierup, Mikkel H

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 194 KB

english, 2006

13

New mutations in the NHS gene in Nance–Horan Syndrome families from the Netherlands

Florijn, Ralph J, Loves, Willem, Maillette de Buy Wenniger-Prick, Liesbeth J J M, Mannens, Marcel M A M, Tijmes, Nel, Brooks, Simon P, Hardcastle, Alison J, Bergen, Arthur A B

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 125 KB

english, 2006

14

The population history of the Croatian linguistic minority of Molise (southern Italy): a maternal view

Babalini, Carla, Martínez-Labarga, Cristina, Tolk, Helle-Viivi, Kivisild, Toomas, Giampaolo, Rita, Tarsi, Tiziana, Contini, Irene, Barać, Lovorka, Janićijević, Branka, Klarić, Irena Martinović

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 40 KB

english, 2006

15

Meta-analysis of TNF-α promoter −308 A/G polymorphism and SLE susceptibility

Lee, Young Ho, Harley, John B, Nath, Swapan K

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 48 KB

english, 2006

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