Volume 17; Issue 1

European Journal of Human Genetics

Volume 17; Issue 1

1

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome

Di Gaetano, Cornelia, Cerutti, Nicoletta, Crobu, Francesca, Robino, Carlo, Inturri, Serena, Gino, Sarah, Guarrera, Simonetta, Underhill, Peter A, King, Roy J, Romano, Valentino

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 411 KB

english, 2008

2

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

Glancy, Mary, Barnicoat, Angela, Vijeratnam, Rajan, de Souza, Sharon, Gilmore, Joanne, Huang, Shuwen, Maloney, Viv K, Thomas, N Simon, Bunyan, David J, Jackson, Ann

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 307 KB

english, 2008

3

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Dequeker, Els, Stuhrmann, Manfred, Morris, Michael A, Casals, Teresa, Castellani, Carlo, Claustres, Mireille, Cuppens, Harry, des Georges, Marie, Ferec, Claude, Macek, Milan

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 273 KB

english, 2008

4

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

Snozek, Christine LH, Lagerstedt, Susan A, Khoo, Teck K, Rubenfire, Melvyn, Isley, William L, Train, Laura J, Baudhuin, Linnea M

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 99 KB

english, 2008

5

Dual-allele dipstick assay for genotyping single nucleotide polymorphisms by primer extension reaction

Konstantou, Jessica K, Ioannou, Penelope C, Christopoulos, Theodore K

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 216 KB

english, 2008

6

Variation near complement factor I is associated with risk of advanced AMD

Fagerness, Jesen A, Maller, Julian B, Neale, Benjamin M, Reynolds, Robyn C, Daly, Mark J, Seddon, Johanna M

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 92 KB

english, 2008

7

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)

Alsmadi, Osama, Meyer, Brian F, Alkuraya, Fowzan, Wakil, Salma, Alkayal, Fadi, Al-Saud, Haya, Ramzan, Khushnooda, Al-Sayed, MoeenAldeen

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 310 KB

english, 2008

8

Problems assessing uptake of Huntington disease predictive testing and a proposed solution

Tassicker, Roslyn J, Teltscher, Betty, Trembath, M Kaye, Collins, Veronica, Sheffield, Leslie J, Chiu, Edmond, Gurrin, Lyle, Delatycki, Martin B

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 92 KB

english, 2008

9

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

Ebermann, Inga, Koenekoop, Robert K, Lopez, Irma, Bou-Khzam, Lara, Pigeon, Renée, Bolz, Hanno J

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 126 KB

english, 2008

10

Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions

Bhatt, Samarth, Moradkhani, Kamran, Mrasek, Kristin, Puechberty, Jacques, Manvelyan, Marina, Hunstig, Friederike, Lefort, Genevieve, Weise, Anja, Lespinasse, James, Sarda, Pierre

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 157 KB

english, 2008

11

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat

Font-Llitjós, Mariona, Rodríguez-Santiago, Benjamín, Espino, Meritxell, Sillué, Ruth, Mañas, Sandra, Gómez, Laia, Pérez-Jurado, Luis A, Palacín, Manuel, Nunes, Virginia

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 462 KB

english, 2008

12

Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1

Masmoudi, Saber, Medlej-Hashim, Myrna, Chouery, Eliane, Weil, Dominique, Ayadi, Hammadi, Petit, Christine, Mégarbané, André, Belguith, Hanen

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 154 KB

english, 2008

13

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

Kahrizi, Kimia, Najmabadi, Hossein, Kariminejad, Roxana, Jamali, Payman, Malekpour, Mahdi, Garshasbi, Masoud, Ropers, Hans Hilger, Kuss, Andreas Walter, Tzschach, Andreas

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 178 KB

english, 2008

14

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

Van Opstal, Diane, Boter, Marjan, de Jong, Danielle, van den Berg, Cardi, Brüggenwirth, Hennie T, Wildschut, Hajo I J, de Klein, Annelies, Galjaard, Robert-Jan H

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 140 KB

english, 2008

15

Prader–Willi syndrome

Cassidy, Suzanne B, Driscoll, Daniel J

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 512 KB

english, 2008

16

Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

Engbers, Hannelie, van der Smagt, Jasper J, van ‘t Slot, Ruben, Vermeesch, Joris R, Hochstenbach, Ron, Poot, Martin

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 249 KB

english, 2008

17

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Gitiaux, Cyril, Ceballos-Picot, Irène, Marie, Sandrine, Valayannopoulos, Vassili, Rio, Marlène, Verrieres, Séverine, Benoist, Jean François, Vincent, Marie Françoise, Desguerre, Isabelle, Bahi-Buisson

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

18

Low frequency of imprinting defects in ICSI children born small for gestational age

Kanber, Deniz, Buiting, Karin, Zeschnigk, Michael, Ludwig, Michael, Horsthemke, Bernhard

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 270 KB

english, 2008

19

Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus

Griggs, Bradley L, Ladd, Sydney, Decker, Amy, DuPont, Barbara R, Asamoah, Alexander, Srivastava, Anand K

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 226 KB

english, 2008

20

Imprinting, Small Babies and Assisted Reproduction: Genomic imprinting, small babies and assisted reproduction

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 53 KB

english, 2008

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@1delivery.pm

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