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S Manouvrier

Showing results (51-60 of 79) with videos related to

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Journal of Medical Genetics|October 21, 1999
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndromeS Manouvrier-Hanu, J Amiel, S Jacquot, et al.
Clinical Genetics|January 6, 2011
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndromeF Petit, M Holder-Espinasse, B Duban-Bedu, et al.
Revue De Chirurgie Orthopedique Et Reparatrice De L'Appareil Moteur|April 13, 2006
[Genetics and orthopedics: genetic implications of congenital limb abnormalities]M Holder-Espinasse, B Herbaux, A Mezel, et al.
European Journal of Medical Genetics|January 11, 2020
Fraser syndrome without cryptophthalmos: Two casesS Boussion, S Lyonnet, B Van Der Zwaag, et al.
Journal of Medical Genetics|August 1, 1995
Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafnessS Manouvrier, A Rötig, G Hannebique, et al.
European Journal of Medical Genetics|October 8, 2009
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imagingM J Alao, D Bonneau, M Holder-Espinasse, et al.
American Journal of Medical Genetics|September 1, 1990
Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a familyL A Moreno, F Gottrand, D Turck, et al.
Journal of Medical Genetics|July 5, 2003
Myhre syndrome: new reports, review, and differential diagnosisL Burglen, D Héron, A Moerman, et al.
Nature Genetics|August 31, 2001
CARD15 mutations in Blau syndromeC Miceli-Richard, S Lesage, M Rybojad, et al.
Presse Medicale (Paris, France : 1983)|January 9, 2001
[Trisomy 18: ultrasound aspects. Report of 40 cases]L Brun, P Dufour, J B Savary, et al.
Pageof 8

Showing results (51-60 of 79) with videos related to

Sort By:
Pageof 8
Journal of Medical Genetics|October 21, 1999
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndromeS Manouvrier-Hanu, J Amiel, S Jacquot, et al.
Clinical Genetics|January 6, 2011
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndromeF Petit, M Holder-Espinasse, B Duban-Bedu, et al.
Revue De Chirurgie Orthopedique Et Reparatrice De L'Appareil Moteur|April 13, 2006
[Genetics and orthopedics: genetic implications of congenital limb abnormalities]M Holder-Espinasse, B Herbaux, A Mezel, et al.
European Journal of Medical Genetics|January 11, 2020
Fraser syndrome without cryptophthalmos: Two casesS Boussion, S Lyonnet, B Van Der Zwaag, et al.
Journal of Medical Genetics|August 1, 1995
Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafnessS Manouvrier, A Rötig, G Hannebique, et al.
European Journal of Medical Genetics|October 8, 2009
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imagingM J Alao, D Bonneau, M Holder-Espinasse, et al.
American Journal of Medical Genetics|September 1, 1990
Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a familyL A Moreno, F Gottrand, D Turck, et al.
Journal of Medical Genetics|July 5, 2003
Myhre syndrome: new reports, review, and differential diagnosisL Burglen, D Héron, A Moerman, et al.
Nature Genetics|August 31, 2001
CARD15 mutations in Blau syndromeC Miceli-Richard, S Lesage, M Rybojad, et al.
Presse Medicale (Paris, France : 1983)|January 9, 2001
[Trisomy 18: ultrasound aspects. Report of 40 cases]L Brun, P Dufour, J B Savary, et al.
Pageof 8