Volume 7; Issue 2

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Genetic Testing
Volume 7; Issue 2

Genetic Testing

Volume 7; Issue 2

1

Chromosome 5

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 181 KB

english, 2003

2

A Rapid and Definitive Test for Charcot-Marie-Tooth 1A and Hereditary Neuropathy with Liability to Pressure Palsies Using Multiplexed Real-Time PCR

Lorentzos, P., Kaiser, T., Kennerson, M.L., Nicholson, G.A.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 150 KB

english, 2003

3

High Incidence of Profound Deafness in an Isolated Community

Zlotogora, Joel, Barges, Saleh

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 74 KB

english, 2003

4

Connexin-30 Deletion Analysis in Connexin-26 Heterozygotes

Stevenson, Victoria A., Ito, Masamichi, Milunsky, Jeff M.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 89 KB

english, 2003

5

Characterization of the Molecular Defect in the ATP7B Gene in Wilson Disease Patients from Yugoslavia

Loudianos, Georgios, Kostic, Vladimir, Solinas, Paola, Lovicu, Mario, Dessì, Valeria, Svetel, Marina, Major, Tamara, Cao, Antonio

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 117 KB

english, 2003

6

Sialic Acid Storage Disease and Related Disorders

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 181 KB

english, 2003

7

A Simple Method of Screening for the Common Connexin-26 Gene 35delG Mutation in Nonsyndromic Neurosensory Autosomal Recessive Deafness

Fernández-Burriel, Miguel, Rodríguez-Quiñones, Francisco

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 123 KB

english, 2003

8

HFE Alleles in an Irish Cystic Fibrosis Population

Devaney, J., Maher, M., Smith, T., Houghton, J.A., Glennon, M.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 109 KB

english, 2003

9

Incidence of Chromosomal Mosaicism in Human Embryos at Different Developmental Stages Analyzed by Fluorescence In Situ Hybridization

Gonzalez-Merino, Eric, Emiliani, Serena, Vassart, Gilbert, Van den Bergh, Marc, Vannin, Anne-Sophie, Abramowicz, Marc, Delneste, Danièle, Englert, Yvon

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 194 KB

english, 2003

10

Professional and Personal Attitudes about Access and Confidentiality in the Genetic Testing of Children: A Pilot Study

Campbell, Elizabeth, Ross, Lainie Friedman

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 214 KB

english, 2003

11

Mutational Analysis of the Human Dihydropyrimidine Dehydrogenase Gene by Denaturing High-Performance Liquid Chromatography

Fischer, Joachim, Schwab, Matthias, Eichelbaum, Michel, Zanger, Ulrich M.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 189 KB

english, 2003

12

Absence of the Kilifi Mutation in the Rhinovirus-Binding Domain of ICAM-1 in a Caucasian Population

Vijgen, Leen, Van Essche, Mark, Van Ranst, Marc

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 91 KB

english, 2003

13

Molecular Genetic Testing of β-Thalassemia Patients of Indian Origin and a Novel 8-bp Deletion Mutation at Codons 36/37/38/39

Gupta, Anju, Hattori, Yukio, Gupta, Usha R., Sarwai, Swati, Nigam, Nitu, Singhal, Pragya, Agarwal, Sarita

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 233 KB

english, 2003

14

Screening for Familial Dysautonomia in Israel: Evidence for Higher Carrier Rate among Polish Ashkenazi Jews

Lehavi, Ofer, Aizenstein, Orna, Bercovich, Dani, Pavzner, Dina, Shomrat, Ruth, Orr-Urtreger, Avi, Yaron, Yuval

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 101 KB

english, 2003

15

Issues in Newborn Screening

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 80 KB

english, 2003