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B Doray

Showing results (21-30 of 31) with videos related to

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Human Molecular Genetics|August 13, 1998
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung diseaseB Doray, R Salomon, J Amiel, et al.
Prenatal Diagnosis|January 25, 2013
Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 casesA Gaudineau, B Doray, E Schaefer, 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.
Ophthalmic Genetics|November 12, 2010
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomalyK Aliferis, C Marsal, V Pelletier, et al.
Clinical Genetics|October 2, 2009
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literatureC Nemos, L Lambert, F Giuliano, 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|February 14, 2015
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathyC Leroy, M-L Jacquemont, B Doray, 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.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|August 29, 2012
[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]B Doray, D Badila-Timbolschi, E Schaefer, et al.
Clinical Genetics|March 19, 2010
Delineation of 15q13.3 microdeletionsA Masurel-Paulet, J Andrieux, P Callier, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Human Molecular Genetics|August 13, 1998
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung diseaseB Doray, R Salomon, J Amiel, et al.
Prenatal Diagnosis|January 25, 2013
Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 casesA Gaudineau, B Doray, E Schaefer, 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.
Ophthalmic Genetics|November 12, 2010
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomalyK Aliferis, C Marsal, V Pelletier, et al.
Clinical Genetics|October 2, 2009
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literatureC Nemos, L Lambert, F Giuliano, 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|February 14, 2015
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathyC Leroy, M-L Jacquemont, B Doray, 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.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|August 29, 2012
[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]B Doray, D Badila-Timbolschi, E Schaefer, et al.
Clinical Genetics|March 19, 2010
Delineation of 15q13.3 microdeletionsA Masurel-Paulet, J Andrieux, P Callier, et al.
Pageof 4