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Volume 10; Issue 4
Main
Genetic Testing
Volume 10; Issue 4
Genetic Testing
Volume 10; Issue 4
1
Strategy for Comprehensive Molecular Testing for Duchenne and Becker Muscular Dystrophies
Stockley, Tracy L.
,
Akber, Sarah
,
Bulgin, Natalie
,
Ray, Peter N.
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 3.70 MB
Your tags:
english, 2006
2
Characterization of Missense Mutations and Large Deletions in the ALPL Gene by Sequencing and Quantitative Multiplex PCR of Short Fragments
Spentchian, Marc
,
Brun-Heath, Isabelle
,
Taillandier, Agnès
,
Fauvert, Delphine
,
Serre, Jean-Louis
,
Simon-Bouy, Brigitte
,
Carvalho, Filipa
,
Grochova, Ilga
,
Mehta, Sarju G.
,
Müller, Grit
,
Oberstein, Sask
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2006
3
High Frequency of 35delG GJB2 Mutation and Absence of del( GJB6-D13S1830 ) in Greek Cypriot Patients with Nonsyndromic Hearing Loss
Neocleous, Vassos
,
Aspris, Andreas
,
Shahpenterian, Vasken
,
Nicolaou, Vassos
,
Panagi, Charalambos
,
Ioannou, Ioannis
,
Kyamides, Yiannis
,
Anastasiadou, Violetta
,
Phylactou, Leonidas A.
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 145 KB
Your tags:
english, 2006
4
Screening of 99 Danish Patients with Congenital Heart Disease for GATA4 Mutations
Zhang, Litu
,
Tümer, Zeynep
,
Jacobsen, Joes Ramsøe
,
Andersen, Paal Skytt
,
Tommerup, Niels
,
Larsen, Lars Allan
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 68 KB
Your tags:
english, 2006
5
Rapid and Efficient FBN1 Mutation Detection Using Automated Sample Preparation and Direct Sequencing As the Primary Strategy
Tjeldhorn, Lena
,
Rand-Hendriksen, Svend
,
Gervin, Kristina
,
Brandal, Kristin
,
Inderhaug, Elin
,
Geiran, Odd
,
Paus, Benedicte
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 1.19 MB
Your tags:
english, 2006
6
Rapid and Efficient FBN1 Mutation Detection Using Automated Sample Preparation and Direct Sequencing As the Primary Strategy
Tjeldhorn, Lena
,
Rand-Hendriksen, Svend
,
Gervin, Kristina
,
Brandal, Kristin
,
Inderhaug, Elin
,
Geiran, Odd
,
Paus, Benedicte
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 128 KB
Your tags:
english, 2006
7
Genetic Screening for Two LRRK2 Mutations in French Patients with Idiopathic Parkinson's Disease
Funalot, Benoît
,
Nichols, William C.
,
Pérez-Tur, Jordi
,
Mercier, Géraldine
,
Lucotte, Gérard
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 68 KB
Your tags:
english, 2006
8
Prenatal and Postnatal Characterization of a De Novo Xq22.1 Terminal Deletion
Vaglio, Alicia
,
Greif, Gonzalo
,
Bernal, Mery
,
Sanguinetti, Carlos
,
Mechoso, Búrix
,
Quadrelli, Andrea
,
Tucci, Paula
,
Milunsky, Jeff M.
,
Huang, Xin-Li
,
Pagano, Sinthia
,
Quadrelli, Roberto
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 3.92 MB
Your tags:
english, 2006
9
Screening for Partial Deletions in the CREBBP Gene in Rubinstein–Taybi Syndrome Patients Using Multiplex PCR/Liquid Chromatography
Udaka, Toru
,
Kurosawa, Kenji
,
Izumi, Kosuke
,
Yoshida, Shinobu
,
Tsukahara, Masato
,
Okamoto, Nobuhiko
,
Torii, Chiharu
,
Kosaki, Rika
,
Masuno, Mitsuo
,
Hosokai, Noboru
,
Takahashi, Takao
,
Kosaki, Kenjiro
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 5.45 MB
Your tags:
english, 2006
10
Lack of Germ-Line Promoter Methylation in BRCA1 -Negative Families with Familial Breast Cancer
Chen, Ying
,
Toland, Amanda E.
,
McLennan, Jane
,
Fridlyand, Jane
,
Crawford, Beth
,
Costello, Dr. Joseph F.
,
Ziegler, John L.
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 161 KB
Your tags:
english, 2006
11
Screening for CHARGE Syndrome Mutations in the CHD7 Gene Using Denaturing High-Performance Liquid Chromatography
Aramaki, Michihiko
,
Udaka, Toru
,
Torii, Chiharu
,
Samejima, Hazuki
,
Kosaki, Rika
,
Takahashi, Takao
,
Kosaki, Kenjiro
Journal:
Genetic Testing
Year:
2006
Language:
english
File:
PDF, 1.30 MB
Your tags:
english, 2006
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