L Bachner|J C Kaplan - JoVE Visualize

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European Journal of Biochemistry|February 14, 1990

Quantitative estimation of minor mRNAs by cDNA-polymerase chain reaction. Application to dystrophin mRNA in cultured myogenic and brain cellsJ Chelly, D Montarras, C Pinset, et al.

Human Genetics|December 1, 1987

Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasiaF Marlhens, J Chelly, J C Kaplan, et al.

Prenatal Diagnosis|April 1, 1989

Usefulness of linkage disequilibrium of KM-19 and XV-2c DNA probes for genetic counselling in a high-risk CF familyJ C Chomel, A Haliassos, L Tesson, et al.

Nucleic Acids Research|October 25, 1989

Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markersA Haliassos, J C Chomel, S Grandjouan, et al.

American Journal of Human Genetics|November 1, 1995

Mapping of a gene for long QT syndrome to chromosome 4q25-27J J Schott, F Charpentier, S Peltier, et al.

Nucleic Acids Research|September 11, 1984

The isolation of a human Ig V lambda gene from a recombinant library of chromosome 22 and estimation of its copy numberM L Anderson, M F Szajnert, J C Kaplan, et al.

Genomics|May 1, 1992

Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markersS Somlo, B Wirth, G G Germino, et al.

Human Genetics|June 1, 1995

Three novel sequence variations in the 5' upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defectT Bienvenu, V Lacronique, M Raymondjean, et al.

European Journal of Human Genetics : EJHG|January 1, 1996

Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patientsT Bienvenu, C Beldjord, J Chelly, et al.

Annales De Genetique|January 1, 1980

[Sesquialter dosage effect of erythrocytic and leucocytic nucleoside phosphorylase in two patients with proximal trisomy 14q (author's transl)]C Junien, J C Kaplan, O Raoul, et al.

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European Journal of Biochemistry|February 14, 1990

Quantitative estimation of minor mRNAs by cDNA-polymerase chain reaction. Application to dystrophin mRNA in cultured myogenic and brain cellsJ Chelly, D Montarras, C Pinset, et al.

Human Genetics|December 1, 1987

Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasiaF Marlhens, J Chelly, J C Kaplan, et al.

Prenatal Diagnosis|April 1, 1989

Usefulness of linkage disequilibrium of KM-19 and XV-2c DNA probes for genetic counselling in a high-risk CF familyJ C Chomel, A Haliassos, L Tesson, et al.

Nucleic Acids Research|October 25, 1989

Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markersA Haliassos, J C Chomel, S Grandjouan, et al.

American Journal of Human Genetics|November 1, 1995

Mapping of a gene for long QT syndrome to chromosome 4q25-27J J Schott, F Charpentier, S Peltier, et al.

Nucleic Acids Research|September 11, 1984

The isolation of a human Ig V lambda gene from a recombinant library of chromosome 22 and estimation of its copy numberM L Anderson, M F Szajnert, J C Kaplan, et al.

Genomics|May 1, 1992

Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markersS Somlo, B Wirth, G G Germino, et al.

Human Genetics|June 1, 1995

Three novel sequence variations in the 5' upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defectT Bienvenu, V Lacronique, M Raymondjean, et al.

European Journal of Human Genetics : EJHG|January 1, 1996

Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patientsT Bienvenu, C Beldjord, J Chelly, et al.

Annales De Genetique|January 1, 1980

[Sesquialter dosage effect of erythrocytic and leucocytic nucleoside phosphorylase in two patients with proximal trisomy 14q (author's transl)]C Junien, J C Kaplan, O Raoul, et al.

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