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C Kubisch

Showing results (21-30 of 34) with videos related to

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Cell|February 20, 1999
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafnessC Kubisch, B C Schroeder, T Friedrich, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|October 15, 2015
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literatureA Hedergott, A E Volk, P Herkenrath, et al.
Molecular Syndromology|October 30, 2010
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid FeaturesB Saha, D Lessel, F M Hisama, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 18, 2004
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle diseaseP Y K Van den Bergh, J M Gérard, J A Elosegi, et al.
Neurology|January 5, 2002
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutationM Vorgerd, K Ricker, F Ziemssen, et al.
Human Molecular Genetics|August 15, 2000
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosisU Kornak, A Schulz, W Friedrich, et al.
HNO|July 29, 2009
[Virtual endoscopy of the nose and paranasal sinuses in real-time. Surgical planning system "Sinus endoscopy" (SPS-SE)]G Strauss, E Limpert, M Fischer, et al.
Epilepsy Research|September 21, 2000
No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsyK Haug, K Hallmann, S Horvath, et al.
Cephalalgia : an International Journal of Headache|June 30, 2009
Genetic association study of endothelin-1 and its receptors EDNRA and EDNRB in migraine with auraP Tikka-Kleemola, M A Kaunisto, E Hämäläinen, et al.
Annals of Neurology|March 20, 1998
Mutation analysis in myophosphorylase deficiency (McArdle's disease)M Vorgerd, C Kubisch, B Burwinkel, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
Cell|February 20, 1999
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafnessC Kubisch, B C Schroeder, T Friedrich, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|October 15, 2015
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literatureA Hedergott, A E Volk, P Herkenrath, et al.
Molecular Syndromology|October 30, 2010
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid FeaturesB Saha, D Lessel, F M Hisama, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 18, 2004
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle diseaseP Y K Van den Bergh, J M Gérard, J A Elosegi, et al.
Neurology|January 5, 2002
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutationM Vorgerd, K Ricker, F Ziemssen, et al.
Human Molecular Genetics|August 15, 2000
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosisU Kornak, A Schulz, W Friedrich, et al.
HNO|July 29, 2009
[Virtual endoscopy of the nose and paranasal sinuses in real-time. Surgical planning system "Sinus endoscopy" (SPS-SE)]G Strauss, E Limpert, M Fischer, et al.
Epilepsy Research|September 21, 2000
No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsyK Haug, K Hallmann, S Horvath, et al.
Cephalalgia : an International Journal of Headache|June 30, 2009
Genetic association study of endothelin-1 and its receptors EDNRA and EDNRB in migraine with auraP Tikka-Kleemola, M A Kaunisto, E Hämäläinen, et al.
Annals of Neurology|March 20, 1998
Mutation analysis in myophosphorylase deficiency (McArdle's disease)M Vorgerd, C Kubisch, B Burwinkel, et al.
Pageof 4