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E Flori

Showing results (31-40 of 45) with videos related to

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Clinical Chemistry|September 7, 2000
Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19)B Costes, E Girodon, D Vidaud, et al.
Biochemical Pharmacology|May 3, 2017
Pharmacological PPARγ modulation regulates sebogenesis and inflammation in SZ95 human sebocytesA Mastrofrancesco, M Ottaviani, G Cardinali, et al.
The Journal of Clinical Endocrinology and Metabolism|February 1, 1996
Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitizationC Desbois-Mouthon, C Sert-Langeron, J Magre, et al.
Dermatology (Basel, Switzerland)|August 1, 2013
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorderM Fradin, C Merklen-Djafri, C Perrigouard, et al.
Clinical Genetics|April 19, 2003
Failure of prenatal diagnosis of diploid-triploid mosaicism after amniocentesisE Flori, B Doray, G Rudolf, et al.
Human Genetics|December 1, 1988
Interstitial deletion of chromosome 15: two casesL D Formiga, L Poenaru, F Couronne, et al.
Human Molecular Genetics|March 1, 1996
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseJ Amiel, T Attié, D Jan, et al.
Clinical Genetics|September 10, 2010
Osteosclerotic bone dysplasia in siblings with a Fam20C mutationMelanie Fradin, C Stoetzel, J Muller, et al.
Clinical Genetics|September 6, 2013
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major causeF Petit, F Escande, A S Jourdain, et al.
Clinical Genetics|May 23, 2013
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutationsE Schaefer, J Lauer, M Durand, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
Clinical Chemistry|September 7, 2000
Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19)B Costes, E Girodon, D Vidaud, et al.
Biochemical Pharmacology|May 3, 2017
Pharmacological PPARγ modulation regulates sebogenesis and inflammation in SZ95 human sebocytesA Mastrofrancesco, M Ottaviani, G Cardinali, et al.
The Journal of Clinical Endocrinology and Metabolism|February 1, 1996
Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitizationC Desbois-Mouthon, C Sert-Langeron, J Magre, et al.
Dermatology (Basel, Switzerland)|August 1, 2013
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorderM Fradin, C Merklen-Djafri, C Perrigouard, et al.
Clinical Genetics|April 19, 2003
Failure of prenatal diagnosis of diploid-triploid mosaicism after amniocentesisE Flori, B Doray, G Rudolf, et al.
Human Genetics|December 1, 1988
Interstitial deletion of chromosome 15: two casesL D Formiga, L Poenaru, F Couronne, et al.
Human Molecular Genetics|March 1, 1996
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseJ Amiel, T Attié, D Jan, et al.
Clinical Genetics|September 10, 2010
Osteosclerotic bone dysplasia in siblings with a Fam20C mutationMelanie Fradin, C Stoetzel, J Muller, et al.
Clinical Genetics|September 6, 2013
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major causeF Petit, F Escande, A S Jourdain, et al.
Clinical Genetics|May 23, 2013
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutationsE Schaefer, J Lauer, M Durand, et al.
Pageof 5