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Showing results (151-160 of 223) with videos related to

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Journal of Medical Genetics|December 14, 2004
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndromeG Borck, R Redon, D Sanlaville, et al.
American Journal of Medical Genetics|January 8, 1999
Expression of the RET proto-oncogene in human embryosT Attié-Bitach, M Abitbol, M Gérard, et al.
American Journal of Medical Genetics|February 25, 1998
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndromeM Bahuau, C Houdayer, B Assouline, et al.
Clinical Genetics|April 30, 2017
The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C functionC T Gordon, A Tessier, Z Demir, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 1, 1991
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutationG A Mitchell, D Labuda, G Fontaine, et al.
The Journal of Clinical Endocrinology and Metabolism|July 21, 2005
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb developmentG Pinto, V Abadie, R Mesnage, et al.
American Journal of Medical Genetics|December 18, 1996
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis associationM Bahuau, W Flintoff, B Assouline, et al.
Prenatal Diagnosis|October 19, 2005
Gorlin syndrome presenting as prenatal chylothorax in a girlD Geneviève, E Walter, P Gorry, et al.
Journal of Medical Genetics|July 7, 2000
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow upD Sanlaville, M C Aubry, Y Dumez, et al.
American Journal of Medical Genetics|August 17, 1999
Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.
Pageof 23

Showing results (151-160 of 223) with videos related to

Sort By:
Pageof 23
Journal of Medical Genetics|December 14, 2004
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndromeG Borck, R Redon, D Sanlaville, et al.
American Journal of Medical Genetics|January 8, 1999
Expression of the RET proto-oncogene in human embryosT Attié-Bitach, M Abitbol, M Gérard, et al.
American Journal of Medical Genetics|February 25, 1998
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndromeM Bahuau, C Houdayer, B Assouline, et al.
Clinical Genetics|April 30, 2017
The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C functionC T Gordon, A Tessier, Z Demir, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 1, 1991
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutationG A Mitchell, D Labuda, G Fontaine, et al.
The Journal of Clinical Endocrinology and Metabolism|July 21, 2005
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb developmentG Pinto, V Abadie, R Mesnage, et al.
American Journal of Medical Genetics|December 18, 1996
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis associationM Bahuau, W Flintoff, B Assouline, et al.
Prenatal Diagnosis|October 19, 2005
Gorlin syndrome presenting as prenatal chylothorax in a girlD Geneviève, E Walter, P Gorry, et al.
Journal of Medical Genetics|July 7, 2000
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow upD Sanlaville, M C Aubry, Y Dumez, et al.
American Journal of Medical Genetics|August 17, 1999
Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.
Pageof 23