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Daniela Del Gaudio

Showing results (41-50 of 55) with videos related to

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Human Mutation|February 7, 2020
Update of variants identified in the pancreatic β-cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetesElisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, et al.
Nature Genetics|October 4, 2011
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genomeClaudia M B Carvalho, Melissa B Ramocki, Davut Pehlivan, et al.
JAMA Network Open|August 9, 2023
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With MesotheliomaOwen D Mitchell, Katie Gilliam, Daniela Del Gaudio, et al.
Blood Advances|October 9, 2020
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentationsSimone Feurstein, Ayodeji Adegunsoye, Danijela Mojsilovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2018
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"Kai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2006
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individualsKai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesLoren D M Pena, Yong-Hui Jiang, Kelly Schoch, et al.
American Journal of Human Genetics|February 29, 2020
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental DisordersMaria J Nabais Sá, Geniver El Tekle, Arjan P M de Brouwer, et al.
Leukemia|January 29, 2021
Germline variants drive myelodysplastic syndrome in young adultsSimone Feurstein, Jane E Churpek, Tom Walsh, et al.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
Human Mutation|February 7, 2020
Update of variants identified in the pancreatic β-cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetesElisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, et al.
Nature Genetics|October 4, 2011
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genomeClaudia M B Carvalho, Melissa B Ramocki, Davut Pehlivan, et al.
JAMA Network Open|August 9, 2023
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With MesotheliomaOwen D Mitchell, Katie Gilliam, Daniela Del Gaudio, et al.
Blood Advances|October 9, 2020
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentationsSimone Feurstein, Ayodeji Adegunsoye, Danijela Mojsilovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2018
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"Kai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2006
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individualsKai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesLoren D M Pena, Yong-Hui Jiang, Kelly Schoch, et al.
American Journal of Human Genetics|February 29, 2020
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental DisordersMaria J Nabais Sá, Geniver El Tekle, Arjan P M de Brouwer, et al.
Leukemia|January 29, 2021
Germline variants drive myelodysplastic syndrome in young adultsSimone Feurstein, Jane E Churpek, Tom Walsh, et al.
Pageof 6