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Genetic Testing Volume 10 Issue 4

2008
- Volume 12
2007
- Volume 11
2006
- Volume 10
2005
- Volume 9
2004
- Volume 8
2003
- Volume 7
2002
- Volume 6
2001
- Volume 5
2000
- Volume 4
1999
- Volume 3
1998
- Volume 2
  - Issue 4 (Jan)
  - Issue 1 (Jan)
1997
- Volume 1

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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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006
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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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006
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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.

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006
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Strategy for Comprehensive Molecular Testing for Duchenne and Becker Muscular Dystrophies

Stockley, Tracy L.; Akber, Sarah; Bulgin, Natalie; Ray, Peter N.

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006
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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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006
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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.

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006
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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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006
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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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006
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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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006
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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, Saskia Lesnik; Ogur, Gonul; Sharif, Saba; Mornet, Etienne

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

Genetic Testing Volume 10 Issue 4

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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

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.

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

Strategy for Comprehensive Molecular Testing for Duchenne and Becker Muscular Dystrophies

Stockley, Tracy L.; Akber, Sarah; Bulgin, Natalie; Ray, Peter N.

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

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.

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

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

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

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, Saskia Lesnik; Ogur, Gonul; Sharif, Saba; Mornet, Etienne

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

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Genetic Testing Volume 10 Issue 4

1 - 10 of 10 articles

Aramaki, Michihiko; Udaka, Toru; Torii, Chiharu; Samejima, Hazuki; Kosaki, Rika; Takahashi, Takao; Kosaki, Kenjiro

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

Udaka, Toru; Kurosawa, Kenji; Izumi, Kosuke; Yoshida, Shinobu; Tsukahara, Masato; Okamoto, Nobuhiko; Torii, Chiharu; Kosaki, Rika; Masuno, Mitsuo; Hosokai, Noboru; Takahashi, Takao; Kosaki, Kenjiro

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

Neocleous, Vassos; Aspris, Andreas; Shahpenterian, Vasken; Nicolaou, Vassos; Panagi, Charalambos; Ioannou, Ioannis; Kyamides, Yiannis; Anastasiadou, Violetta; Phylactou, Leonidas A.

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

Stockley, Tracy L.; Akber, Sarah; Bulgin, Natalie; Ray, Peter N.

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

Zhang, Litu; Tümer, Zeynep; Jacobsen, Joes Ramsøe; Andersen, Paal Skytt; Tommerup, Niels; Larsen, Lars Allan

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

Chen, Ying; Toland, Amanda E.; McLennan, Jane; Fridlyand, Jane; Crawford, Beth; Costello, Dr. Joseph F.; Ziegler, John L.

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

Funalot, Benoît; Nichols, William C.; Pérez-Tur, Jordi; Mercier, Géraldine; Lucotte, Gérard

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

Vaglio, Alicia; Greif, Gonzalo; Bernal, Mery; Sanguinetti, Carlos; Mechoso, Búrix; Quadrelli, Andrea; Tucci, Paula; Milunsky, Jeff M.; Huang, Xin-Li; Pagano, Sinthia; Quadrelli, Roberto

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

Tjeldhorn, Lena; Rand-Hendriksen, Svend; Gervin, Kristina; Brandal, Kristin; Inderhaug, Elin; Geiran, Odd; Paus, Benedicte

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006

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, Saskia Lesnik; Ogur, Gonul; Sharif, Saba; Mornet, Etienne

Follow Genetic Testing , Volume 10 (4) Mary Ann Liebert – Dec 1, 2006