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Volume 10; Issue 3
Main
Genetic Testing
Volume 10; Issue 3
Genetic Testing
Volume 10; Issue 3
1
Novel Vasopressin Type 2 ( AVPR2 ) Gene Mutations in Brazilian Nephrogenic Diabetes Insipidus Patients
Boson, W.L.
,
Manna, T. Della
,
Damiani, D.
,
Miranda, D.M.
,
Gadelha, M.R.
,
Liberman, B.
,
Correa, H.
,
Romano-Silva, M.A.
,
Friedman, E.
,
Silva, F.F.
,
Ribeiro, P.A.
,
Marco, L. De
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 103 KB
Your tags:
english, 2006
2
Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes
Martínez, Francisco
,
León, Ana María
,
Monfort, Sandra
,
Oltra, Silvestre
,
Roselló, Mónica
,
Orellana, Carmen
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 112 KB
Your tags:
english, 2006
3
Frequency of CARD15 Polymorphisms in Patients with Crohn's Disease from Toledo, Spain: Genotype–Phenotype Correlation
Diego, Carles De
,
Alcántara, Mariano
,
Valle, Julio
,
Pérez-Grueso, María José
,
Muñoz-Rosas, Concepción
,
Carrobles, José María
,
Martínez-Castro, Pedro
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 87 KB
Your tags:
english, 2006
4
Quantitative Multiplex Real-Time PCR for Detection of PLP1 Gene Duplications in Pelizaeus–Merzbacher Patients
Mikešová, Emilie
,
Baránková, Lucia
,
Sakmaryová, Iva
,
Tatarková, Iva
,
Seeman, Pavel
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 357 KB
Your tags:
english, 2006
5
The P1812A and P25T BRCA1 and the 5164del4 BRCA2 Mutations: Occurrence in High-Risk Non-Ashkenazi Jews
Kaufman, Bella
,
Laitman, Yael
,
Carvalho, Marcelo A.
,
Edelman, Limor
,
Menachem, Tal Distelman
,
Zidan, Jamal
,
Monteiro, Alvaro N.
,
Friedman, Eitan
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 306 KB
Your tags:
english, 2006
6
Validity and Utility of a LRRK2 G2019S Mutation Test for the Diagnosis of Parkinson's Disease
Kay, Denise M.
,
Bird, Tom D.
,
Zabetian, Cyrus P.
,
Factor, Stewart A.
,
Samii, Ali
,
Higgins, Donald S.
,
Nutt, John
,
Roberts, John W.
,
Griffith, Alida
,
Leis, Berta C.
,
Montimurro, Jennifer S.
,
Philpott,
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 82 KB
Your tags:
english, 2006
7
Molecular Basis of Cystic Fibrosis in Lithuania: Incomplete CFTR Mutation Detection by PCR-Based Screening Protocols
Giannattasio, S.
,
Bobba, A.
,
Jurgelevičius, V.
,
Vacca, R.A.
,
Lattanzio, P.
,
Merafina, R.S.
,
Utkus, A.
,
Kučinskas, V.
,
Marra, E.
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 62 KB
Your tags:
english, 2006
8
Monitoring Standards for Molecular Genetic Testing in the United Kingdom, The Netherlands, and Ireland
Ramsden, Simon C.
,
Deans, Zandra
,
Robinson, David O.
,
Mountford, Roger
,
Sistermans, Erik A.
,
Grody, Wayne W.
,
McQuaid, Shirley
,
Patton, Simon J.
,
Stenhouse, Susan A.R.
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 107 KB
Your tags:
english, 2006
9
Systematic Analysis of Sequence Variability of the Endothelin-1 Gene: A Prerequisite for Association Studies
Diefenbach, Konstanze
,
Arjomand-Nahad, Farhad
,
Meisel, Christian
,
Fietze, Ingo
,
Stangl, Karl
,
Roots, Ivar
,
Köpke, Karla
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 429 KB
Your tags:
english, 2006
10
A Frequent Large Rearrangement in the CFTR Gene in Cystic Fibrosis Patients from Reunion Island
Nectoux, Juliette
,
Audrezet, Marie Pierre
,
Viel, Marion
,
Leroy, Chrystel
,
Raguenes, Odile
,
Ferec, Claude
,
Lesure, Jean François
,
Davy, Nolwenne
,
Renouil, Michel
,
Cartault, François
,
Bienvenu, Thierry
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 458 KB
Your tags:
english, 2006
11
Different Genes and Polymorphisms Affecting High-Density Lipoprotein Cholesterol Levels in Greek Familial Hypercholesterolemia Patients
Dedoussis, George V.Z.
,
Maumus, Sandy
,
Choumerianou, Despoina M.
,
Skoumas, John
,
Pitsavos, Christos
,
Stefanadis, Christodoulos
,
Visvikis-Siest, Sophie
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 96 KB
Your tags:
english, 2006
12
PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype
Bertola, Débora R.
,
Pereira, Alexandre C.
,
Albano, Lílian Maria José
,
Oliveira, Paulo S.L. De
,
Kim, Chong A.
,
Krieger, José Eduardo
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 72 KB
Your tags:
english, 2006
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