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Raquel M Fernández

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Human Mutation|October 1, 2003
The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypesRaquel M Fernández, Guillermo Antiñolo, Charis Eng, et al.
Experimental and Therapeutic Medicine|September 21, 2012
A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patientsAvencia Sánchez-Mejías, Raquel M Fernández, Guillermo Antiñolo, et al.
Histology and Histopathology|April 23, 2013
Hirschsprung's disease as a model of complex genetic etiologySalud Borrego, Macarena Ruiz-Ferrer, Raquel M Fernández, et al.
Thyroid : Official Journal of the American Thyroid Association|May 2, 2006
Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinomaRaquel M Fernández, Ana Peciña, Guillermo Antiñolo, et al.
Thyroid : Official Journal of the American Thyroid Association|September 12, 2017
ESR2 Gene and Medullary Thyroid CarcinomaMacarena Ruiz-Ferrer, Raquel M Fernández, Elena Navarro, et al.
Thyroid : Official Journal of the American Thyroid Association|June 2, 2016
G534E Variant in HABP2 and Nonmedullary Thyroid CancerMacarena Ruiz-Ferrer, Raquel M Fernández, Elena Navarro, et al.
Clinical Case Reports|September 21, 2016
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patientRaquel M Fernández, Ana Peciña, Beatriz Muñoz-Cabello, et al.
Anales De Pediatria|November 19, 2023
Trichorhinophalangeal syndrome: A diagnosis accessible to the pediatrician at first sightMaría Del Carmen Cortés Jiménez, Raquel M Fernández García, Emilio García García
BMC Medical Genetics|September 24, 2010
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 regionRaquel M Fernández, Rocío Núñez-Torres, Antonio González-Meneses, et al.
BMC Medical Genetics|November 21, 2009
A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) techniqueRocío Núñez-Torres, Raquel M Fernández, Manuel López-Alonso, et al.
Pageof 4

Showing results (1-10 of 37) with videos related to

Sort By:
Pageof 4
Human Mutation|October 1, 2003
The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypesRaquel M Fernández, Guillermo Antiñolo, Charis Eng, et al.
Experimental and Therapeutic Medicine|September 21, 2012
A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patientsAvencia Sánchez-Mejías, Raquel M Fernández, Guillermo Antiñolo, et al.
Histology and Histopathology|April 23, 2013
Hirschsprung's disease as a model of complex genetic etiologySalud Borrego, Macarena Ruiz-Ferrer, Raquel M Fernández, et al.
Thyroid : Official Journal of the American Thyroid Association|May 2, 2006
Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinomaRaquel M Fernández, Ana Peciña, Guillermo Antiñolo, et al.
Thyroid : Official Journal of the American Thyroid Association|September 12, 2017
ESR2 Gene and Medullary Thyroid CarcinomaMacarena Ruiz-Ferrer, Raquel M Fernández, Elena Navarro, et al.
Thyroid : Official Journal of the American Thyroid Association|June 2, 2016
G534E Variant in HABP2 and Nonmedullary Thyroid CancerMacarena Ruiz-Ferrer, Raquel M Fernández, Elena Navarro, et al.
Clinical Case Reports|September 21, 2016
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patientRaquel M Fernández, Ana Peciña, Beatriz Muñoz-Cabello, et al.
Anales De Pediatria|November 19, 2023
Trichorhinophalangeal syndrome: A diagnosis accessible to the pediatrician at first sightMaría Del Carmen Cortés Jiménez, Raquel M Fernández García, Emilio García García
BMC Medical Genetics|September 24, 2010
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 regionRaquel M Fernández, Rocío Núñez-Torres, Antonio González-Meneses, et al.
BMC Medical Genetics|November 21, 2009
A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) techniqueRocío Núñez-Torres, Raquel M Fernández, Manuel López-Alonso, et al.
Pageof 4