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Showing results (31-40 of 56) with videos related to

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American Journal of Human Genetics|March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderSusan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
International Journal of Molecular Sciences|July 2, 2021
Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP CasesJanine Reurink, Adrian Dockery, Dominika Oziębło, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2017
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disordersRolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, et al.
American Journal of Medical Genetics. Part A|February 21, 2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndromeLeonie A Menke, , Thatjana Gardeitchik, et al.
Nature Genetics|January 10, 2018
Loss-of-function mutations in ADCY3 cause monogenic severe obesitySadia Saeed, Amélie Bonnefond, Filippo Tamanini, et al.
Plos Genetics|September 3, 2010
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locusEvelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, et al.
Prenatal Diagnosis|January 17, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experienceBrigitte H W Faas, Dineke Westra, Sonja A de Munnik, et al.
Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.
Prenatal Diagnosis|April 26, 2020
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imagingChantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, et al.
Pageof 6

Showing results (31-40 of 56) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderSusan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
International Journal of Molecular Sciences|July 2, 2021
Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP CasesJanine Reurink, Adrian Dockery, Dominika Oziębło, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2017
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disordersRolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, et al.
American Journal of Medical Genetics. Part A|February 21, 2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndromeLeonie A Menke, , Thatjana Gardeitchik, et al.
Nature Genetics|January 10, 2018
Loss-of-function mutations in ADCY3 cause monogenic severe obesitySadia Saeed, Amélie Bonnefond, Filippo Tamanini, et al.
Plos Genetics|September 3, 2010
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locusEvelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, et al.
Prenatal Diagnosis|January 17, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experienceBrigitte H W Faas, Dineke Westra, Sonja A de Munnik, et al.
Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.
Prenatal Diagnosis|April 26, 2020
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imagingChantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, et al.
Pageof 6