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Volume 7; Issue 3
Main
Genetic Testing
Volume 7; Issue 3
Genetic Testing
Volume 7; Issue 3
1
A Rapid and Noninvasive Method for Detecting Tissue-Limited Mosaicism: Detection of i(12)(p10) in Buccal Smear from a Child with Pallister-Killian Syndrome
Velagaleti, Gopalrao V. N.
,
Tapper, Jill K.
,
Rampy, Bill A.
,
Zhang, Shuliu
,
Hawkins, Judy C.
,
Lockhart, Lillian H.
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 243 KB
Your tags:
english, 2003
2
High Allelic Heterogeneity Between Afro-Brazilians and Euro-Brazilians Impacts Cystic Fibrosis Genetic Testing
Raskin, Salmo
,
Pereira, Lilian
,
Reis, Francisco
,
Rosario, Nelson A.
,
Ludwig, Norberto
,
Valentim, Lairton
,
Phillips, John A.
,
Allito, Bernice
,
Heim, Ruth A.
,
Sugarman, Elaine A.
,
Probst, Christian M.
,
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 131 KB
Your tags:
english, 2003
3
Characterization of Genomic Variants in CSH1 and GH2 , Two Candidate Genes for Silver-Russell Syndrome in 17q24-q25
Prager, Sebastian
,
Wollmann, Hartmut A.
,
Mergenthaler, Susanne
,
Mavany, Miriam
,
Eggermann, Katja
,
Ranke, Michael B.
,
Eggermann, Thomas
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 120 KB
Your tags:
english, 2003
4
Denaturing High-Performance Liquid Chromatography for the Detection of Mutations and Polymorphisms in UBE3A
Bercovich, D.
,
Beaudet, A. L.
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 190 KB
Your tags:
english, 2003
5
Denaturing High-Performance Liquid Chromatography Quickly and Reliably Detects Cardiac Ion Channel Mutations in Long QT Syndrome
Ning, Li
,
Moss, Arthur
,
Zareba, Woject
,
Robinson, Jennifer
,
Rosero, Spencer
,
Ryan, Dan
,
Qi, Ming
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 142 KB
Your tags:
english, 2003
6
Screening for DMD/BMD Deletion Carriers by Fluorescence In Situ Hybridization
Xiao, Yanping
,
Jiang, Xiurong
,
Wang, Renli
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 221 KB
Your tags:
english, 2003
7
Sex Chromosome Analysis in Turner Syndrome by a Pentaplex PCR Assay
Pelotti, S.
,
Bini, C.
,
Ceccardi, S.
,
Ferri, G.
,
Abbondanza, A.
,
Greggio, N. A.
,
Ponzano, E.
,
Caenazzo, L.
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 153 KB
Your tags:
english, 2003
8
Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy
Colosimo, Alessia
,
Guida, Valentina
,
Scolari, Anna
,
De Luca, Alessandro
,
Palka, Giandomenico
,
Rigoli, Luciana
,
Meo, Anna
,
Salpietro, Damiano Carmelo
,
Dallapiccola, Bruno
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 192 KB
Your tags:
english, 2003
9
Testing Participation in BRCA1/2 -Positive Families: Initiator Role of Index Cases
Blandy, Cécile
,
Chabal, Françoise
,
Stoppa-Lyonnet, Dominique
,
Julian-Reynier, Claire
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 140 KB
Your tags:
english, 2003
10
Rapid Prenatal Testing for Human β-Glucuronidase Deficiency (MPS VII)
Natowicz, Marvin R.
,
Isman, Ferruh
,
Prence, Elizabeth M.
,
Cedrone, Patricia
,
Allen, Jean J.
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 74 KB
Your tags:
english, 2003
11
High Incidence of Two Methylenetetrahydrofolate Reductase Mutations (C677T and A1298C) in Hispanics
Chowdary, Dondapati
,
Streck, Deanna
,
Schwalb, Marvin N.
,
Dermody, James J.
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 82 KB
Your tags:
english, 2003
12
Plasminogen Activator Inhibitor-1 Polymorphism in Women with Pre-eclampsia
Häkli, Tanja
,
Romppanen, Eeva-Liisa
,
Hiltunen, Mikko
,
Helisalmi, Seppo
,
Punnonen, Kari
,
Heinonen, Seppo
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 88 KB
Your tags:
english, 2003
13
Genetic Testing for Hemochromatosis: Attitudes and Acceptability among Young and Older Adults
Hicken, Bret L.
,
Calhoun, David C.
,
Tucker, Diane C.
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 105 KB
Your tags:
english, 2003
14
Calcium Release from Sarcoplasmic Reticulum Is Facilitated in Human Myotubes Derived from Carriers of the Ryanodine Receptor Type 1 Mutations Ile2182Phe and Gly2375Ala
Wehner, M.
,
Rueffert, H.
,
Koenig, F.
,
Olthoff, D.
Journal:
Genetic Testing
Year:
2003
Language:
english
File:
PDF, 290 KB
Your tags:
english, 2003
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