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M Stuhrmann

Showing results (21-30 of 60) with videos related to

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Saudi Medical Journal|September 21, 2016
Hereditary hemorrhagic telangiectasia: A Case Reportel-H A ElHarith, M Al-Kharasani, M A Ahmed, et al.
Annals of Hematology|January 5, 2002
The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin DM Ahmed, M Stuhrmann, L Bashawri, et al.
Archives of Gynecology and Obstetrics|August 19, 2007
Prenatal diagnosis of the Rhesus D fetal blood type on amniotic fluid in daily practiceJ C Goebel, P Soergel, M Pruggmayer, et al.
Human Genetics|February 1, 1991
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenitaM Stuhrmann, H Heilbronner, A Reis, et al.
Journal of Medical Genetics|October 1, 1993
CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553XK Will, J Reiss, M Dean, et al.
Prenatal Diagnosis|October 30, 1998
Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency)M Stuhrmann, B Bohnhorst, U Peters, et al.
Molecular and Cellular Probes|February 1, 1997
A frequent polymorphism of the gene mutated in ataxia telangiectasiaT Dörk, S Westermann, O Dittrich, et al.
The American Journal of Gastroenterology|August 19, 2000
Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitisJ Ockenga, M Stuhrmann, M Ballmann, et al.
The Journal of Clinical Investigation|April 1, 1994
A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosisK Will, T Dörk, M Stuhrmann, et al.
Human Mutation|January 1, 1995
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patientsK Will, T Dörk, M Stuhrmann, et al.
Pageof 6

Showing results (21-30 of 60) with videos related to

Sort By:
Pageof 6
Saudi Medical Journal|September 21, 2016
Hereditary hemorrhagic telangiectasia: A Case Reportel-H A ElHarith, M Al-Kharasani, M A Ahmed, et al.
Annals of Hematology|January 5, 2002
The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin DM Ahmed, M Stuhrmann, L Bashawri, et al.
Archives of Gynecology and Obstetrics|August 19, 2007
Prenatal diagnosis of the Rhesus D fetal blood type on amniotic fluid in daily practiceJ C Goebel, P Soergel, M Pruggmayer, et al.
Human Genetics|February 1, 1991
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenitaM Stuhrmann, H Heilbronner, A Reis, et al.
Journal of Medical Genetics|October 1, 1993
CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553XK Will, J Reiss, M Dean, et al.
Prenatal Diagnosis|October 30, 1998
Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency)M Stuhrmann, B Bohnhorst, U Peters, et al.
Molecular and Cellular Probes|February 1, 1997
A frequent polymorphism of the gene mutated in ataxia telangiectasiaT Dörk, S Westermann, O Dittrich, et al.
The American Journal of Gastroenterology|August 19, 2000
Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitisJ Ockenga, M Stuhrmann, M Ballmann, et al.
The Journal of Clinical Investigation|April 1, 1994
A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosisK Will, T Dörk, M Stuhrmann, et al.
Human Mutation|January 1, 1995
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patientsK Will, T Dörk, M Stuhrmann, et al.
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