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Human Mutation
|
May 9, 2019
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site
Carlijn Brekelmans, Silke Hollants, Caroline De Groote, et al.
European Journal of Human Genetics : EJHG
|
May 7, 2015
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
Jeroen Breckpot, Britt-Marie Anderlid, Yasemin Alanay, et al.
Eclinicalmedicine
|
January 23, 2023
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1
Charlotte Carton, D Gareth Evans, Ignacio Blanco, et al.
Nature Genetics
|
August 21, 2007
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
Hilde Brems, Magdalena Chmara, Mourad Sahbatou, et al.
European Journal of Medical Genetics
|
July 8, 2021
Lessons learned from drug trials in neurofibromatosis: A systematic review
Britt A E Dhaenens, Rosalie E Ferner, D Gareth Evans, et al.
The Lancet. Haematology
|
December 22, 2015
Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study
Peter Vandenberghe, Iwona Wlodarska, Thomas Tousseyn, et al.
Neuro-Oncology
|
February 7, 2018
The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors
Christine S Higham, Eva Dombi, Aljosja Rogiers, et al.
Prenatal Diagnosis
|
February 2, 2018
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing
Nathalie Brison, Maria Neofytou, Luc Dehaspe, et al.
Human Molecular Genetics
|
February 8, 2006
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients
Ophélia Maertens, Hans Prenen, Maria Debiec-Rychter, et al.
Clinical Genetics
|
October 2, 2019
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules
Elisabeth Castellanos, Inma Rosas, Alex Negro, et al.
Page
of 17
Search research articles
Search
Showing results (91-100 of 165) with videos related to
Sort By:
Page
of 17
Human Mutation
|
May 9, 2019
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site
Carlijn Brekelmans, Silke Hollants, Caroline De Groote, et al.
European Journal of Human Genetics : EJHG
|
May 7, 2015
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
Jeroen Breckpot, Britt-Marie Anderlid, Yasemin Alanay, et al.
Eclinicalmedicine
|
January 23, 2023
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1
Charlotte Carton, D Gareth Evans, Ignacio Blanco, et al.
Nature Genetics
|
August 21, 2007
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
Hilde Brems, Magdalena Chmara, Mourad Sahbatou, et al.
European Journal of Medical Genetics
|
July 8, 2021
Lessons learned from drug trials in neurofibromatosis: A systematic review
Britt A E Dhaenens, Rosalie E Ferner, D Gareth Evans, et al.
The Lancet. Haematology
|
December 22, 2015
Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study
Peter Vandenberghe, Iwona Wlodarska, Thomas Tousseyn, et al.
Neuro-Oncology
|
February 7, 2018
The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors
Christine S Higham, Eva Dombi, Aljosja Rogiers, et al.
Prenatal Diagnosis
|
February 2, 2018
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing
Nathalie Brison, Maria Neofytou, Luc Dehaspe, et al.
Human Molecular Genetics
|
February 8, 2006
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients
Ophélia Maertens, Hans Prenen, Maria Debiec-Rychter, et al.
Clinical Genetics
|
October 2, 2019
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules
Elisabeth Castellanos, Inma Rosas, Alex Negro, et al.
Page
of 17