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M Vikkula

Showing results (41-50 of 57) with videos related to

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European Journal of Human Genetics : EJHG|February 15, 2001
Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YACA Irrthum, P Brouillard, O Enjolras, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-aM Veiga-da-Cunha, I Gerin, Y T Chen, et al.
AJNR. American Journal of Neuroradiology|December 17, 2009
A novel association between RASA1 mutations and spinal arteriovenous anomaliesR Thiex, J B Mulliken, N Revencu, et al.
Journal of Medical Genetics|March 1, 1995
A gene for familial venous malformations maps to chromosome 9p in a second large kindredC J Gallione, K A Pasyk, L M Boon, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 30, 1998
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3H Jüppner, E Schipani, M Bastepe, et al.
Cell|December 27, 1996
Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2M Vikkula, L M Boon, K L Carraway, et al.
Cell|February 10, 1995
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locusM Vikkula, E C Mariman, V C Lui, et al.
Molecular Syndromology|October 30, 2013
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedemaA Mendola, M J Schlögel, A Ghalamkarpour, et al.
American Journal of Human Genetics|October 3, 1998
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and IcM Veiga-da-Cunha, I Gerin, Y T Chen, et al.
Molecular Syndromology|June 27, 2013
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb OvergrowthN Revencu, L M Boon, A Dompmartin, et al.
Pageof 6

Showing results (41-50 of 57) with videos related to

Sort By:
Pageof 6
European Journal of Human Genetics : EJHG|February 15, 2001
Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YACA Irrthum, P Brouillard, O Enjolras, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-aM Veiga-da-Cunha, I Gerin, Y T Chen, et al.
AJNR. American Journal of Neuroradiology|December 17, 2009
A novel association between RASA1 mutations and spinal arteriovenous anomaliesR Thiex, J B Mulliken, N Revencu, et al.
Journal of Medical Genetics|March 1, 1995
A gene for familial venous malformations maps to chromosome 9p in a second large kindredC J Gallione, K A Pasyk, L M Boon, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 30, 1998
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3H Jüppner, E Schipani, M Bastepe, et al.
Cell|December 27, 1996
Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2M Vikkula, L M Boon, K L Carraway, et al.
Cell|February 10, 1995
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locusM Vikkula, E C Mariman, V C Lui, et al.
Molecular Syndromology|October 30, 2013
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedemaA Mendola, M J Schlögel, A Ghalamkarpour, et al.
American Journal of Human Genetics|October 3, 1998
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and IcM Veiga-da-Cunha, I Gerin, Y T Chen, et al.
Molecular Syndromology|June 27, 2013
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb OvergrowthN Revencu, L M Boon, A Dompmartin, et al.
Pageof 6