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Skin Health and Disease
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October 2, 2024
Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules
Charlotte Lovatt, Megan Williams, Alex Gibbs, et al.
European Journal of Human Genetics : EJHG
|
April 1, 2022
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis
D Gareth Evans, Stefania Mostaccioli, David Pang, et al.
American Journal of Human Genetics
|
May 19, 2015
Concurrent whole-genome haplotyping and copy-number profiling of single cells
Masoud Zamani Esteki, Eftychia Dimitriadou, Ligia Mateiu, et al.
European Journal of Human Genetics : EJHG
|
January 15, 2015
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
Baran Bayindir, Luc Dehaspe, Nathalie Brison, et al.
American Journal of Medical Genetics. Part A
|
July 24, 2012
The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research
Maria T Acosta, Carrie E Bearden, F Xavier Castellanos, et al.
Cancer Research
|
September 10, 2009
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association
Hilde Brems, Caroline Park, Ophélia Maertens, et al.
Human Mutation
|
November 3, 2011
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions
Antje M Zickler, Stephanie Hampp, Ludwine Messiaen, et al.
JAMA Oncology
|
September 11, 2015
Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing
Frédéric Amant, Magali Verheecke, Iwona Wlodarska, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 28, 2010
Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine
Masashi Suzuki, Wim Van Paesschen, Ingeborg Stalmans, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome
D Babovic-Vuksanovic, Ludwine Messiaen, Christoph Nagel, et al.
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of 17
Search research articles
Search
Showing results (121-130 of 165) with videos related to
Sort By:
Page
of 17
Skin Health and Disease
|
October 2, 2024
Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules
Charlotte Lovatt, Megan Williams, Alex Gibbs, et al.
European Journal of Human Genetics : EJHG
|
April 1, 2022
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis
D Gareth Evans, Stefania Mostaccioli, David Pang, et al.
American Journal of Human Genetics
|
May 19, 2015
Concurrent whole-genome haplotyping and copy-number profiling of single cells
Masoud Zamani Esteki, Eftychia Dimitriadou, Ligia Mateiu, et al.
European Journal of Human Genetics : EJHG
|
January 15, 2015
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
Baran Bayindir, Luc Dehaspe, Nathalie Brison, et al.
American Journal of Medical Genetics. Part A
|
July 24, 2012
The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research
Maria T Acosta, Carrie E Bearden, F Xavier Castellanos, et al.
Cancer Research
|
September 10, 2009
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association
Hilde Brems, Caroline Park, Ophélia Maertens, et al.
Human Mutation
|
November 3, 2011
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions
Antje M Zickler, Stephanie Hampp, Ludwine Messiaen, et al.
JAMA Oncology
|
September 11, 2015
Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing
Frédéric Amant, Magali Verheecke, Iwona Wlodarska, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 28, 2010
Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine
Masashi Suzuki, Wim Van Paesschen, Ingeborg Stalmans, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome
D Babovic-Vuksanovic, Ludwine Messiaen, Christoph Nagel, et al.
Page
of 17