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Carlos I Rivera-Pedroza

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Clinical Chemistry and Laboratory Medicine|January 31, 2014
Reply to the article entitled "Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report" by Galbiati et al., Clin Chem Lab Med 2014;52(4):505-9Carlos I Rivera-Pedroza, Karen E Heath
American Journal of Medical Genetics. Part A|March 19, 2016
Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreportedLucia Sentchordi Montané, Oliver R Marín, Carlos I Rivera-Pedroza, et al.
Archivos Argentinos De Pediatria|May 28, 2014
Severe phenotype in two half-sibs with Adams Oliver syndromeRosalba Sevilla-Montoya, Braulio Ríos-Flores, Elsa Moreno-Verduzco, et al.
European Journal of Medical Genetics|June 11, 2016
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patientJimena Barraza-García, Carlos I Rivera-Pedroza, Alberta Belinchón, et al.
Archivos Argentinos De Pediatria|November 21, 2018
[Sjögren-Larsson syndrome: Pediatric case report]Liliana García-Ortiz, Rosenda Gómez-López, Carlos I Rivera-Pedroza, et al.
Molecular Syndromology|February 25, 2017
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the LiteratureCarlos I Rivera-Pedroza, Jimena Barraza-García, Beatriz Paumard-Hernández, et al.
Human Mutation|July 22, 2017
FGF9 mutation causes craniosynostosis along with multiple synostosesMaria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, et al.
European Journal of Human Genetics : EJHG|October 2, 2014
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variantsBeatriz Paumard-Hernández, Julia Berges-Soria, Eva Barroso, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Clinical Chemistry and Laboratory Medicine|January 31, 2014
Reply to the article entitled "Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report" by Galbiati et al., Clin Chem Lab Med 2014;52(4):505-9Carlos I Rivera-Pedroza, Karen E Heath
American Journal of Medical Genetics. Part A|March 19, 2016
Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreportedLucia Sentchordi Montané, Oliver R Marín, Carlos I Rivera-Pedroza, et al.
Archivos Argentinos De Pediatria|May 28, 2014
Severe phenotype in two half-sibs with Adams Oliver syndromeRosalba Sevilla-Montoya, Braulio Ríos-Flores, Elsa Moreno-Verduzco, et al.
European Journal of Medical Genetics|June 11, 2016
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patientJimena Barraza-García, Carlos I Rivera-Pedroza, Alberta Belinchón, et al.
Archivos Argentinos De Pediatria|November 21, 2018
[Sjögren-Larsson syndrome: Pediatric case report]Liliana García-Ortiz, Rosenda Gómez-López, Carlos I Rivera-Pedroza, et al.
Molecular Syndromology|February 25, 2017
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the LiteratureCarlos I Rivera-Pedroza, Jimena Barraza-García, Beatriz Paumard-Hernández, et al.
Human Mutation|July 22, 2017
FGF9 mutation causes craniosynostosis along with multiple synostosesMaria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, et al.
European Journal of Human Genetics : EJHG|October 2, 2014
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variantsBeatriz Paumard-Hernández, Julia Berges-Soria, Eva Barroso, et al.
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