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Angela Del Pozo

Showing results (11-20 of 22) with videos related to

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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 Medical Genetics|February 22, 2021
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal alleleClara Gómez-González, Rocío Rosas-Alonso, Carlos Rodríguez-Antolín, et al.
International Journal of Molecular Sciences|April 23, 2022
Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic StudyEva González-Iglesias, Ana López-Vázquez, Susana Noval, et al.
Clinical Endocrinology|February 22, 2018
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literatureLucía Sentchordi-Montané, Miriam Aza-Carmona, Sara Benito-Sanz, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaJose A Caparros-Martin, Mona S Aglan, Samia Temtamy, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|January 10, 2019
PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate CancerElena Castro, Nuria Romero-Laorden, Angela Del Pozo, et al.
European Journal of Endocrinology|September 13, 2021
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomaliesLucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, et al.
The Journal of Clinical Endocrinology and Metabolism|April 21, 2020
Clinical and Molecular Description of 16 Families With Heterozygous IHH VariantsLucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, et al.
Genome Biology|April 17, 2021
A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequencyWendell Jones, Binsheng Gong, Natalia Novoradovskaya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
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 Medical Genetics|February 22, 2021
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal alleleClara Gómez-González, Rocío Rosas-Alonso, Carlos Rodríguez-Antolín, et al.
International Journal of Molecular Sciences|April 23, 2022
Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic StudyEva González-Iglesias, Ana López-Vázquez, Susana Noval, et al.
Clinical Endocrinology|February 22, 2018
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literatureLucía Sentchordi-Montané, Miriam Aza-Carmona, Sara Benito-Sanz, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaJose A Caparros-Martin, Mona S Aglan, Samia Temtamy, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|January 10, 2019
PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate CancerElena Castro, Nuria Romero-Laorden, Angela Del Pozo, et al.
European Journal of Endocrinology|September 13, 2021
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomaliesLucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, et al.
The Journal of Clinical Endocrinology and Metabolism|April 21, 2020
Clinical and Molecular Description of 16 Families With Heterozygous IHH VariantsLucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, et al.
Genome Biology|April 17, 2021
A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequencyWendell Jones, Binsheng Gong, Natalia Novoradovskaya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
Pageof 3