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European Journal of Human Genetics : EJHG
|
June 15, 2006
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation
Pascale Saugier-Veber, Alice Goldenberg, Valérie Drouin-Garraud, et al.
Journal of Medical Genetics
|
January 22, 2013
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
Virginie Bubien, Françoise Bonnet, Veronique Brouste, et al.
Familial Cancer
|
October 27, 2016
BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer
Estelle Jamard, Bertrand Volard, Audrey Emmanuelle Dugué, et al.
European Journal of Endocrinology
|
February 12, 2025
Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants
Karine Aouchiche, Camille Charmensat, Pertuit Morgane, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2014
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
Laurent Castéra, Sophie Krieger, Antoine Rousselin, et al.
Orphanet Journal of Rare Diseases
|
December 13, 2019
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
Maude Grelet, Véronique Blanck, Sabine Sigaudy, et al.
American Journal of Human Genetics
|
August 3, 2010
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome
Valérie Malan, Diana Rajan, Sophie Thomas, et al.
Human Mutation
|
November 22, 2008
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing
Christel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, et al.
Brain : a Journal of Neurology
|
July 16, 2021
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic
Thibault Coste, Dominique Hervé, Jean Philippe Neau, et al.
Archives of Neurology
|
March 14, 2007
LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans
Suzanne Lesage, Sabine Janin, Ebba Lohmann, et al.
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of 4
Search research articles
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Showing results (11-20 of 38) with videos related to
Sort By:
Page
of 4
European Journal of Human Genetics : EJHG
|
June 15, 2006
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation
Pascale Saugier-Veber, Alice Goldenberg, Valérie Drouin-Garraud, et al.
Journal of Medical Genetics
|
January 22, 2013
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
Virginie Bubien, Françoise Bonnet, Veronique Brouste, et al.
Familial Cancer
|
October 27, 2016
BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer
Estelle Jamard, Bertrand Volard, Audrey Emmanuelle Dugué, et al.
European Journal of Endocrinology
|
February 12, 2025
Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants
Karine Aouchiche, Camille Charmensat, Pertuit Morgane, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2014
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
Laurent Castéra, Sophie Krieger, Antoine Rousselin, et al.
Orphanet Journal of Rare Diseases
|
December 13, 2019
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
Maude Grelet, Véronique Blanck, Sabine Sigaudy, et al.
American Journal of Human Genetics
|
August 3, 2010
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome
Valérie Malan, Diana Rajan, Sophie Thomas, et al.
Human Mutation
|
November 22, 2008
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing
Christel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, et al.
Brain : a Journal of Neurology
|
July 16, 2021
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic
Thibault Coste, Dominique Hervé, Jean Philippe Neau, et al.
Archives of Neurology
|
March 14, 2007
LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans
Suzanne Lesage, Sabine Janin, Ebba Lohmann, et al.
Page
of 4