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Showing results (111-120 of 174) with videos related to

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European Journal of Pediatrics|July 31, 2001
Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau diseaseS Frenzel, T W Apel, P H Heidemann, et al.
Neuroscience|April 20, 2005
Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNAC A Hübner, A Senning, U Orth, et al.
Neurology|March 1, 2006
Outcome and effect of pregnancy in myotonic dystrophy type 2S Rudnik-Schöneborn, C Schneider-Gold, U Raabe, et al.
Biochemical and Biophysical Research Communications|November 13, 1995
Fine mapping of MEP1A, the gene encoding the alpha subunit of the metalloendopeptidase meprin, to human chromosome 6P21W Jiang, G Dewald, E Brundage, et al.
Der Pathologe|November 8, 2003
[Pathology and genetic hereditary kidney cysts]B Hermanns, J Alfer, K Fischedick, et al.
Journal of Medical Genetics|October 4, 2005
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)C Bergmann, F Küpper, C P Schmitt, et al.
Prenatal Diagnosis|September 1, 1995
Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) during the early second trimesterJ Wisser, G Hebisch, U Froster, et al.
Human Genetics|October 28, 1997
Different entities of proximal spinal muscular atrophy within one familyB Wirth, D Tessarolo, E Hahnen, et al.
Clinical Dysmorphology|April 1, 1995
Desbuquois syndrome: three further cases and review of the literatureG Gillessen-Kaesbach, P Meinecke, M G Ausems, et al.
American Journal of Human Genetics|April 17, 1999
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counselingB Wirth, M Herz, A Wetter, et al.
Pageof 18

Showing results (111-120 of 174) with videos related to

Sort By:
Pageof 18
European Journal of Pediatrics|July 31, 2001
Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau diseaseS Frenzel, T W Apel, P H Heidemann, et al.
Neuroscience|April 20, 2005
Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNAC A Hübner, A Senning, U Orth, et al.
Neurology|March 1, 2006
Outcome and effect of pregnancy in myotonic dystrophy type 2S Rudnik-Schöneborn, C Schneider-Gold, U Raabe, et al.
Biochemical and Biophysical Research Communications|November 13, 1995
Fine mapping of MEP1A, the gene encoding the alpha subunit of the metalloendopeptidase meprin, to human chromosome 6P21W Jiang, G Dewald, E Brundage, et al.
Der Pathologe|November 8, 2003
[Pathology and genetic hereditary kidney cysts]B Hermanns, J Alfer, K Fischedick, et al.
Journal of Medical Genetics|October 4, 2005
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)C Bergmann, F Küpper, C P Schmitt, et al.
Prenatal Diagnosis|September 1, 1995
Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) during the early second trimesterJ Wisser, G Hebisch, U Froster, et al.
Human Genetics|October 28, 1997
Different entities of proximal spinal muscular atrophy within one familyB Wirth, D Tessarolo, E Hahnen, et al.
Clinical Dysmorphology|April 1, 1995
Desbuquois syndrome: three further cases and review of the literatureG Gillessen-Kaesbach, P Meinecke, M G Ausems, et al.
American Journal of Human Genetics|April 17, 1999
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counselingB Wirth, M Herz, A Wetter, et al.
Pageof 18