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Raquel Rabionet

Showing results (1-10 of 63) with videos related to

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Briefings in Functional Genomics|April 17, 2015
A decade of structural variants: description, history and methods to detect structural variationGeòrgia Escaramís, Elisa Docampo, Raquel Rabionet
Trends in Molecular Medicine|June 18, 2002
Connexin mutations in hearing loss, dermatological and neurological disordersRaquel Rabionet, Núria López-Bigas, Maria Lourdes Arbonès, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|January 23, 2025
Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signalingDiana Ovejero, Natalia Garcia-Giralt, Juan David Patiño-Salazar, et al.
Human Genetics|August 22, 2002
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expressionEva Thönnissen, Raquel Rabionet, Maria Lourdes Arbonès, et al.
Epigenomics|October 5, 2019
Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitusAngela Steyn, Nigel J Crowther, Shane A Norris, et al.
BMC Genetics|July 9, 2013
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like proteinJohanna Aigner, Sergi Villatoro, Raquel Rabionet, et al.
Human Genomics|August 15, 2024
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fracturesNatalia Garcia-Giralt, Diana Ovejero, Daniel Grinberg, et al.
Biochemical and Biophysical Research Communications|February 7, 2006
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairmentEster Ballana, Estela Morales, Raquel Rabionet, et al.
Orphanet Journal of Rare Diseases|February 20, 2022
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disordersMaría Isabel Álvarez-Mora, Aurora Sánchez, Laia Rodríguez-Revenga, et al.
Clinical Case Reports|August 28, 2018
The <i>ASXL1</i> mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz SyndromeRoser Urreizti, Semra Gürsoy, Laura Castilla-Vallmanya, et al.
Pageof 7

Showing results (1-10 of 63) with videos related to

Sort By:
Pageof 7
Briefings in Functional Genomics|April 17, 2015
A decade of structural variants: description, history and methods to detect structural variationGeòrgia Escaramís, Elisa Docampo, Raquel Rabionet
Trends in Molecular Medicine|June 18, 2002
Connexin mutations in hearing loss, dermatological and neurological disordersRaquel Rabionet, Núria López-Bigas, Maria Lourdes Arbonès, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|January 23, 2025
Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signalingDiana Ovejero, Natalia Garcia-Giralt, Juan David Patiño-Salazar, et al.
Human Genetics|August 22, 2002
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expressionEva Thönnissen, Raquel Rabionet, Maria Lourdes Arbonès, et al.
Epigenomics|October 5, 2019
Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitusAngela Steyn, Nigel J Crowther, Shane A Norris, et al.
BMC Genetics|July 9, 2013
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like proteinJohanna Aigner, Sergi Villatoro, Raquel Rabionet, et al.
Human Genomics|August 15, 2024
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fracturesNatalia Garcia-Giralt, Diana Ovejero, Daniel Grinberg, et al.
Biochemical and Biophysical Research Communications|February 7, 2006
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairmentEster Ballana, Estela Morales, Raquel Rabionet, et al.
Orphanet Journal of Rare Diseases|February 20, 2022
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disordersMaría Isabel Álvarez-Mora, Aurora Sánchez, Laia Rodríguez-Revenga, et al.
Clinical Case Reports|August 28, 2018
The <i>ASXL1</i> mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz SyndromeRoser Urreizti, Semra Gürsoy, Laura Castilla-Vallmanya, et al.
Pageof 7