Volume 19; Issue 12

European Journal of Human Genetics

Volume 19; Issue 12

1

Mutation and linkage disequilibrium in human mtDNA

Hedrick, Philip, Kumar, Sudhir

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 93 KB

english, 2001

2

Annual Review of Genomics and Human Genetics

Brunner, Dr Han G

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 33 KB

english, 2001

3

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

Srebniak, Malgorzata, Boter, Marjan, Oudesluijs, Grétel, Joosten, Marieke, Govaerts, Lutgarde, Van Opstal, Diane, Galjaard, Robert-Jan H

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 651 KB

english, 2011

4

Renal coloboma syndrome

Schimmenti, Lisa A

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 385 KB

english, 2011

5

2p15–p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

Liu, Xudong, Malenfant, Patrick, Reesor, Chelsea, Lee, Alana, Hudson, Melissa L, Harvard, Chansonette, Qiao, Ying, Persico, Antonio M, Cohen, Ira L, Chudley, Albert E, Forster-Gibson, Cynthia, Rajcan-

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 764 KB

english, 2011

6

The potential influence of KIR cluster profiles on disease patterns of Canadian Aboriginals and other indigenous peoples of the Americas

Rempel, Julia D, Hawkins, Kim, Lande, Erin, Nickerson, Peter

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 233 KB

english, 2011

7

Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study

Wineinger, Nathan E, Pajewski, Nicholas M, Kennedy, Richard E, Wojczynski, Mary K, Vaughan, Laura K, Hunt, Steven C, Gu, C Charles, Rao, Dabeeru C, Lorier, Rachel, Broeckel, Ulrich, Arnett, Donna K, T

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 326 KB

english, 2011

8

CGene: an R package for implementation of causal genetic analyses

Lipman, Peter J, Lange, Christoph

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 145 KB

english, 2011

9

Maternally inherited mitochondrial DNA disease in consanguineous families

Alston, Charlotte L, He, Langping, Morris, Andrew A, Hughes, Imelda, Goede, Christian de, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 238 KB

english, 2011

10

Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation

Labenski, Heike, Hedtfeld, Silke, Becker, Tim, Tümmler, Burkhard, Stanke, Frauke

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 706 KB

english, 2011

11

A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q

Berry, Vanita, Ionides, Alexander C W, Moore, Anthony T, Bhattacharya, Shomi S

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 198 KB

english, 2011

12

Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families

Hebrard, Maxime, Manes, Gaël, Bocquet, Béatrice, Meunier, Isabelle, Coustes-Chazalette, Delphine, Hérald, Emilie, Sénéchal, Audrey, Bolland-Augé, Anne, Zelenika, Diana, Hamel, Christian P

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 484 KB

english, 2011

13

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

Paciorkowski, Alex R, Thio, Liu Lin, Rosenfeld, Jill A, Gajecka, Marzena, Gurnett, Christina A, Kulkarni, Shashikant, Chung, Wendy K, Marsh, Eric D, Gentile, Mattia, Reggin, James D, Wheless, James W,

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 445 KB

english, 2011

14

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

Facio, Flavia M, Brooks, Stephanie, Loewenstein, Johanna, Green, Susannah, Biesecker, Leslie G, Biesecker, Barbara B

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 231 KB

english, 2011

15

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

Barca-Tierno, Verónica, Aza-Carmona, Miriam, Barroso, Eva, Heine-Suner, Damia, Azmanov, Dimitar, Rosell, Jordi, Ezquieta, Begoña, Montané, Lucia Sentchordi, Vendrell, Teresa, Cruz, Jaime, Santos, Fern

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 467 KB

english, 2011

16

iPS cells to model CDKL5-related disorders

Amenduni, Mariangela, De Filippis, Roberta, Cheung, Aaron Y L, Disciglio, Vittoria, Epistolato, Maria Carmela, Ariani, Francesca, Mari, Francesca, Mencarelli, Maria Antonietta, Hayek, Youssef, Renieri

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 794 KB

english, 2011

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