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Hilde Brems

Showing results (11-20 of 72) with videos related to

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European Journal of Endocrinology|September 15, 2023
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian familiesAxelle Vuylsteke, Laurens Hannes, Hilde Brems, et al.
Pediatric Dermatology|February 11, 2026
Novel Identical Likely Pathogenic ACTB Variant in Congenital Smooth Muscle Hamartoma: A Report of Two Pediatric CasesCaroline Colmant, Eric Legius, Ifigenia Spanoudi-Kitrimi, et al.
BMC Medical Genetics|May 1, 2015
Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutationSaid Farschtschi, Victor-Felix Mautner, Silke Hollants, et al.
Journal of Mother and Child|March 8, 2021
A Patient with neonatal cholestasisKristl G Claeys, Luc Breysem, Eric Legius, et al.
Pediatric Dermatology|March 2, 2018
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief reportPieter Denorme, Marie-Anne Morren, Silke Hollants, et al.
American Journal of Human Genetics|August 2, 2007
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1Ophélia Maertens, Sofie De Schepper, Jo Vandesompele, et al.
Genes, Chromosomes & Cancer|June 27, 2013
EPCAM germline and somatic rearrangements in Lynch syndrome: identification of a novel 3'EPCAM deletionMarijke Spaepen, Esther Neven, Xavier Sagaert, et al.
European Journal of Human Genetics : EJHG|January 24, 2008
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletionsKatharina Steinmann, Lan Kluwe, David N Cooper, et al.
Molecular Autism|July 27, 2021
MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disordersSarah C Borrie, Ellen Plasschaert, Zsuzsanna Callaerts-Vegh, et al.
Neurobiology of Disease|June 23, 2004
Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patientsSilke Frahm, Victor-F Mautner, Hilde Brems, et al.
Pageof 8

Showing results (11-20 of 72) with videos related to

Sort By:
Pageof 8
European Journal of Endocrinology|September 15, 2023
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian familiesAxelle Vuylsteke, Laurens Hannes, Hilde Brems, et al.
Pediatric Dermatology|February 11, 2026
Novel Identical Likely Pathogenic ACTB Variant in Congenital Smooth Muscle Hamartoma: A Report of Two Pediatric CasesCaroline Colmant, Eric Legius, Ifigenia Spanoudi-Kitrimi, et al.
BMC Medical Genetics|May 1, 2015
Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutationSaid Farschtschi, Victor-Felix Mautner, Silke Hollants, et al.
Journal of Mother and Child|March 8, 2021
A Patient with neonatal cholestasisKristl G Claeys, Luc Breysem, Eric Legius, et al.
Pediatric Dermatology|March 2, 2018
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief reportPieter Denorme, Marie-Anne Morren, Silke Hollants, et al.
American Journal of Human Genetics|August 2, 2007
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1Ophélia Maertens, Sofie De Schepper, Jo Vandesompele, et al.
Genes, Chromosomes & Cancer|June 27, 2013
EPCAM germline and somatic rearrangements in Lynch syndrome: identification of a novel 3'EPCAM deletionMarijke Spaepen, Esther Neven, Xavier Sagaert, et al.
European Journal of Human Genetics : EJHG|January 24, 2008
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletionsKatharina Steinmann, Lan Kluwe, David N Cooper, et al.
Molecular Autism|July 27, 2021
MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disordersSarah C Borrie, Ellen Plasschaert, Zsuzsanna Callaerts-Vegh, et al.
Neurobiology of Disease|June 23, 2004
Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patientsSilke Frahm, Victor-F Mautner, Hilde Brems, et al.
Pageof 8