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Showing results (31-40 of 38) with videos related to

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Anales Espanoles De Pediatria|March 1, 1993
[A case of neonatal Pallister-Killian syndrome (tetrasomy 12p)]J González de Dios, A García-Alix Pérez, A Díaz de Bustamante, et al.
Prenatal Diagnosis|April 25, 2006
Euchromatic variant 16p+. Implications in prenatal diagnosisI López Pajares, O Villa, M Salido, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|June 23, 2004
[Williams-Beuren syndrome: presentation of 82 cases]I Pascual-Castroviejo, S I Pascual-Pascual, F Moreno Granado, et al.
Clinical Genetics|September 7, 2005
Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndromeL Fernández, P Lapunzina, D Arjona, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|March 11, 2006
[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome]P Lapunzina Badía, M del Campo Casanelles, A Delicado Navarro, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|June 24, 2006
[Holt-Oram syndrome: characterization of a novel mutation]L Fernández García-Moya, P Lapunzina Badía, A Delicado Navarro, et al.
Human Mutation|March 17, 2010
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletionsB D'haene, J Nevado, M Pugeat, et al.
Journal of Medical Genetics|March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeT Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.
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Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
Anales Espanoles De Pediatria|March 1, 1993
[A case of neonatal Pallister-Killian syndrome (tetrasomy 12p)]J González de Dios, A García-Alix Pérez, A Díaz de Bustamante, et al.
Prenatal Diagnosis|April 25, 2006
Euchromatic variant 16p+. Implications in prenatal diagnosisI López Pajares, O Villa, M Salido, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|June 23, 2004
[Williams-Beuren syndrome: presentation of 82 cases]I Pascual-Castroviejo, S I Pascual-Pascual, F Moreno Granado, et al.
Clinical Genetics|September 7, 2005
Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndromeL Fernández, P Lapunzina, D Arjona, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|March 11, 2006
[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome]P Lapunzina Badía, M del Campo Casanelles, A Delicado Navarro, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|June 24, 2006
[Holt-Oram syndrome: characterization of a novel mutation]L Fernández García-Moya, P Lapunzina Badía, A Delicado Navarro, et al.
Human Mutation|March 17, 2010
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletionsB D'haene, J Nevado, M Pugeat, et al.
Journal of Medical Genetics|March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeT Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.
Pageof 4