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Ludwine Messiaen

Showing results (11-20 of 88) with videos related to

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American Journal of Medical Genetics. Part A|September 15, 2015
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosisNathan Gossai, Jaclyn A Biegel, Ludwine Messiaen, et al.
Neurogenetics|March 13, 2017
Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patientsMeng-Chang Hsiao, Arkadiusz Piotrowski, Andrzej Brunon Poplawski, et al.
American Journal of Medical Genetics|March 29, 2002
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletionStefan Vermeulen, Ludwine Messiaen, Petra Scheir, et al.
The Journal of Investigative Dermatology|October 5, 2007
Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytesSofie De Schepper, Ophélia Maertens, Tom Callens, et al.
Dermatology (Basel, Switzerland)|October 2, 2004
Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1Sofie De Schepper, Sandra Janssens, Ludwine Messiaen, et al.
Human Genetics|November 8, 2003
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1Ina Vandenbroucke, Remco van Doorn, Tom Callens, et al.
Human Mutation|July 4, 2012
Review and update of SPRED1 mutations causing Legius syndromeHilde Brems, Eric Pasmant, Rick Van Minkelen, et al.
Human Mutation|November 4, 2004
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1Andrea Zatkova, Ludwine Messiaen, Ina Vandenbroucke, et al.
Archives of Dermatological Research|February 16, 2006
Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?Sofie De Schepper, Joachim Boucneau, Yves Vander Haeghen, et al.
Oncogene|May 31, 2002
Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 geneKathleen Claes, Jo Vandesompele, Bruce Poppe, et al.
Pageof 9

Showing results (11-20 of 88) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|September 15, 2015
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosisNathan Gossai, Jaclyn A Biegel, Ludwine Messiaen, et al.
Neurogenetics|March 13, 2017
Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patientsMeng-Chang Hsiao, Arkadiusz Piotrowski, Andrzej Brunon Poplawski, et al.
American Journal of Medical Genetics|March 29, 2002
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletionStefan Vermeulen, Ludwine Messiaen, Petra Scheir, et al.
The Journal of Investigative Dermatology|October 5, 2007
Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytesSofie De Schepper, Ophélia Maertens, Tom Callens, et al.
Dermatology (Basel, Switzerland)|October 2, 2004
Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1Sofie De Schepper, Sandra Janssens, Ludwine Messiaen, et al.
Human Genetics|November 8, 2003
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1Ina Vandenbroucke, Remco van Doorn, Tom Callens, et al.
Human Mutation|July 4, 2012
Review and update of SPRED1 mutations causing Legius syndromeHilde Brems, Eric Pasmant, Rick Van Minkelen, et al.
Human Mutation|November 4, 2004
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1Andrea Zatkova, Ludwine Messiaen, Ina Vandenbroucke, et al.
Archives of Dermatological Research|February 16, 2006
Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?Sofie De Schepper, Joachim Boucneau, Yves Vander Haeghen, et al.
Oncogene|May 31, 2002
Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 geneKathleen Claes, Jo Vandesompele, Bruce Poppe, et al.
Pageof 9