Search research articles
Contact Us
Filters
Showing results (11-20 of 72) with videos related to
Page
of 8
Sort By:
European Journal of Endocrinology
|
September 15, 2023
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families
Axelle 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 Cases
Caroline 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 mutation
Said Farschtschi, Victor-Felix Mautner, Silke Hollants, et al.
Journal of Mother and Child
|
March 8, 2021
A Patient with neonatal cholestasis
Kristl 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 report
Pieter 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 1
Ophélia 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 deletion
Marijke 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 deletions
Katharina 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 disorders
Sarah 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 patients
Silke Frahm, Victor-F Mautner, Hilde Brems, et al.
Page
of 8
Search research articles
Search
Showing results (11-20 of 72) with videos related to
Sort By:
Page
of 8
European Journal of Endocrinology
|
September 15, 2023
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families
Axelle 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 Cases
Caroline 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 mutation
Said Farschtschi, Victor-Felix Mautner, Silke Hollants, et al.
Journal of Mother and Child
|
March 8, 2021
A Patient with neonatal cholestasis
Kristl 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 report
Pieter 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 1
Ophélia 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 deletion
Marijke 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 deletions
Katharina 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 disorders
Sarah 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 patients
Silke Frahm, Victor-F Mautner, Hilde Brems, et al.
Page
of 8