L Bachner|J C Kaplan - JoVE Visualize

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Human Mutation|January 29, 2000

A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. OnlineT Bienvenu, S Bousquet, D Vidaud, et al.

Journal of Virology|April 1, 1996

Effects of zidovudine-selected human immunodeficiency virus type 1 reverse transcriptase amino acid substitutions on processive DNA synthesis and viral replicationA M Caliendo, A Savara, D An, et al.

Annales De Genetique|January 1, 1997

Prevalence, male germ-line origin and new patterns of inversions in haemophilia AS Valleix, K Nafa, N Stieltjes, et al.

Nouvelle Revue Francaise D'Hematologie|January 1, 1989

Congenital cyanosis due to methemoglobin reductase deficiency: first reported Tunisian caseR Hafsia, B Meddeb, B Mtimet, et al.

Developmental Medicine and Child Neurology|December 11, 1997

Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophyR M Quinlivan, S A Robb, C Sewry, et al.

Annales De Medecine Interne|January 1, 1981

[Prenatal diagnosis of generalized cytochrome b5 reductase deficiency (congenital methemoglobinemia with mental retardation, type II) (author's transl)]J C Kaplan, C Junien, A Leroux, et al.

American Journal of Human Genetics|April 1, 1997

A gene for dominant nonspecific X-linked mental retardation is located in Xq28V des Portes, P Billuart, A Carrié, et al.

Annales De Genetique|January 1, 1980

[Increase of LDH A and partial trisomy 11p (author's transl)]M O Rethoré, C Junien, A Aurias, et al.

Human Genetics|March 1, 1992

CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcriptsN Fonknechten, J Chelly, J Lepercq, et al.

Nature|January 19, 1989

Absence of significant RNA-dependent DNA polymerase activity in lymphocytes from patients with Kawasaki syndromeM E Melish, N J Marchette, J C Kaplan, et al.

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Showing results (91-100 of 185) with videos related to

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Pageof 19

Human Mutation|January 29, 2000

A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. OnlineT Bienvenu, S Bousquet, D Vidaud, et al.

Journal of Virology|April 1, 1996

Effects of zidovudine-selected human immunodeficiency virus type 1 reverse transcriptase amino acid substitutions on processive DNA synthesis and viral replicationA M Caliendo, A Savara, D An, et al.

Annales De Genetique|January 1, 1997

Prevalence, male germ-line origin and new patterns of inversions in haemophilia AS Valleix, K Nafa, N Stieltjes, et al.

Nouvelle Revue Francaise D'Hematologie|January 1, 1989

Congenital cyanosis due to methemoglobin reductase deficiency: first reported Tunisian caseR Hafsia, B Meddeb, B Mtimet, et al.

Developmental Medicine and Child Neurology|December 11, 1997

Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophyR M Quinlivan, S A Robb, C Sewry, et al.

Annales De Medecine Interne|January 1, 1981

[Prenatal diagnosis of generalized cytochrome b5 reductase deficiency (congenital methemoglobinemia with mental retardation, type II) (author's transl)]J C Kaplan, C Junien, A Leroux, et al.

American Journal of Human Genetics|April 1, 1997

A gene for dominant nonspecific X-linked mental retardation is located in Xq28V des Portes, P Billuart, A Carrié, et al.

Annales De Genetique|January 1, 1980

[Increase of LDH A and partial trisomy 11p (author's transl)]M O Rethoré, C Junien, A Aurias, et al.

Human Genetics|March 1, 1992

CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcriptsN Fonknechten, J Chelly, J Lepercq, et al.

Nature|January 19, 1989

Absence of significant RNA-dependent DNA polymerase activity in lymphocytes from patients with Kawasaki syndromeM E Melish, N J Marchette, J C Kaplan, et al.

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