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Anna Lindstrand

Showing results (21-30 of 127) with videos related to

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Pediatric Surgery International|May 25, 2026
Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotationKarin Salehi Karlslätt, Maria Pettersson, Kristina Lagerstedt-Robinson, et al.
Frontiers in Genetics|March 25, 2022
Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe ObesityPetra Loid, Minna Pekkinen, Taina Mustila, et al.
Clinical Genetics|February 19, 2025
Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) HaploinsufficiencyElin Stavrén-Eriksson, Anna Hammarsjö, Anna Lindstrand, et al.
International Journal of Molecular Sciences|August 26, 2022
Multi-Omic Investigations of a 17-19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and OsteoporosisJesper Eisfeldt, Jakob Schuy, Eva-Lena Stattin, et al.
Plos One|July 28, 2023
Transposable element insertions in 1000 Swedish individualsKristine Bilgrav Saether, Daniel Nilsson, Håkan Thonberg, et al.
American Journal of Medical Genetics. Part A|March 21, 2017
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneityMaria Pettersson, Birgitta Bergendal, Johanna Norderyd, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotypeMalin Kvarnung, Anna Lindstrand, Helena Malmgren, et al.
Human Mutation|December 30, 2017
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafishWolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, et al.
BMC Bioinformatics|July 3, 2020
Loqusdb: added value of an observations database of local genomic variationMåns Magnusson, Jesper Eisfeldt, Daniel Nilsson, et al.
Human Mutation|July 17, 2022
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocationJesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, et al.
Pageof 13

Showing results (21-30 of 127) with videos related to

Sort By:
Pageof 13
Pediatric Surgery International|May 25, 2026
Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotationKarin Salehi Karlslätt, Maria Pettersson, Kristina Lagerstedt-Robinson, et al.
Frontiers in Genetics|March 25, 2022
Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe ObesityPetra Loid, Minna Pekkinen, Taina Mustila, et al.
Clinical Genetics|February 19, 2025
Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) HaploinsufficiencyElin Stavrén-Eriksson, Anna Hammarsjö, Anna Lindstrand, et al.
International Journal of Molecular Sciences|August 26, 2022
Multi-Omic Investigations of a 17-19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and OsteoporosisJesper Eisfeldt, Jakob Schuy, Eva-Lena Stattin, et al.
Plos One|July 28, 2023
Transposable element insertions in 1000 Swedish individualsKristine Bilgrav Saether, Daniel Nilsson, Håkan Thonberg, et al.
American Journal of Medical Genetics. Part A|March 21, 2017
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneityMaria Pettersson, Birgitta Bergendal, Johanna Norderyd, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotypeMalin Kvarnung, Anna Lindstrand, Helena Malmgren, et al.
Human Mutation|December 30, 2017
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafishWolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, et al.
BMC Bioinformatics|July 3, 2020
Loqusdb: added value of an observations database of local genomic variationMåns Magnusson, Jesper Eisfeldt, Daniel Nilsson, et al.
Human Mutation|July 17, 2022
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocationJesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, et al.
Pageof 13