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Miikka Vikkula

Showing results (51-60 of 199) with videos related to

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European Journal of Human Genetics : EJHG|June 25, 2002
Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5qIiro Eerola, Laurence M Boon, Shoji Watanabe, et al.
Acta Dermato-Venereologica|March 26, 2004
Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east GermanyLivia Zanardo, Wilhelm Stolz, Gerd Schmitz, et al.
American Journal of Medical Genetics. Part A|April 14, 2021
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrumRichard Coulie, Dmitriy M Niyazov, Michael J Gambello, et al.
American Journal of Medical Genetics. Part A|November 22, 2018
Unmasking familial CPX by WES and identification of novel clinical signsBénédicte Demeer, Nicole Revencu, Raphael Helaers, et al.
The Journal of Investigative Dermatology|March 4, 2011
KITLG mutations cause familial progressive hyper- and hypopigmentationMustapha Amyere, Thomas Vogt, Joe Hoo, et al.
European Journal of Human Genetics : EJHG|September 1, 2005
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian populationMichella Ghassibé, Benedicte Bayet, Nicole Revencu, et al.
European Journal of Human Genetics : EJHG|January 10, 2013
Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 geneNathalie Lannoy, Bernard Grisart, Stéphane Eeckhoudt, et al.
American Journal of Medical Genetics. Part A|July 7, 2021
EPHB4 mutation causes adult and adolescent-onset primary lymphedemaArin K Greene, Pascal Brouillard, Christopher L Sudduth, et al.
Human Mutation|December 22, 2025
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial CleftPeyman Ranji, Eleonore Pairet, Raphael Helaers, et al.
Endocrine-Related Cancer|May 19, 2017
<i>KIF1B</i> and <i>NF1</i> are the most frequently mutated genes in paraganglioma and pheochromocytoma tumorsLucie Evenepoel, Raphaël Helaers, Laurent Vroonen, et al.
Pageof 20

Showing results (51-60 of 199) with videos related to

Sort By:
Pageof 20
European Journal of Human Genetics : EJHG|June 25, 2002
Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5qIiro Eerola, Laurence M Boon, Shoji Watanabe, et al.
Acta Dermato-Venereologica|March 26, 2004
Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east GermanyLivia Zanardo, Wilhelm Stolz, Gerd Schmitz, et al.
American Journal of Medical Genetics. Part A|April 14, 2021
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrumRichard Coulie, Dmitriy M Niyazov, Michael J Gambello, et al.
American Journal of Medical Genetics. Part A|November 22, 2018
Unmasking familial CPX by WES and identification of novel clinical signsBénédicte Demeer, Nicole Revencu, Raphael Helaers, et al.
The Journal of Investigative Dermatology|March 4, 2011
KITLG mutations cause familial progressive hyper- and hypopigmentationMustapha Amyere, Thomas Vogt, Joe Hoo, et al.
European Journal of Human Genetics : EJHG|September 1, 2005
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian populationMichella Ghassibé, Benedicte Bayet, Nicole Revencu, et al.
European Journal of Human Genetics : EJHG|January 10, 2013
Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 geneNathalie Lannoy, Bernard Grisart, Stéphane Eeckhoudt, et al.
American Journal of Medical Genetics. Part A|July 7, 2021
EPHB4 mutation causes adult and adolescent-onset primary lymphedemaArin K Greene, Pascal Brouillard, Christopher L Sudduth, et al.
Human Mutation|December 22, 2025
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial CleftPeyman Ranji, Eleonore Pairet, Raphael Helaers, et al.
Endocrine-Related Cancer|May 19, 2017
<i>KIF1B</i> and <i>NF1</i> are the most frequently mutated genes in paraganglioma and pheochromocytoma tumorsLucie Evenepoel, Raphaël Helaers, Laurent Vroonen, et al.
Pageof 20