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Rolf W Stottmann

Showing results (61-70 of 73) with videos related to

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Nature Genetics|March 11, 2008
THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in ciliaPamela V Tran, Courtney J Haycraft, Tatiana Y Besschetnova, et al.
American Journal of Medical Genetics. Part A|October 8, 2022
PPP2R1A neurodevelopmental disorder is associated with congenital heart defectsElizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, et al.
HGG Advances|November 5, 2024
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndromeSwetha Ramadesikan, Iftekhar A Showpnil, Mohammad Marhabaie, et al.
Human Molecular Genetics|September 22, 2017
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in miceZhuo Li, Yanyan Peng, Robert B Hufnagel, et al.
Genome Research|May 5, 2012
Mutation mapping and identification by whole-genome sequencingIgnaty Leshchiner, Kristen Alexa, Peter Kelsey, et al.
Nature Communications|January 3, 2024
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial developmentAndrea Wilderman, Eva D'haene, Machteld Baetens, et al.
NPJ Genomic Medicine|December 18, 2024
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromesIftekhar A Showpnil, Maria E Hernandez Gonzalez, Swetha Ramadesikan, et al.
American Journal of Human Genetics|October 25, 2022
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorderReham Khalaf-Nazzal, James Fasham, Katherine A Inskeep, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureAlanna Strong, Soumya Rao, Sandra von Hardenberg, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Pageof 8

Showing results (61-70 of 73) with videos related to

Sort By:
Pageof 8
Nature Genetics|March 11, 2008
THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in ciliaPamela V Tran, Courtney J Haycraft, Tatiana Y Besschetnova, et al.
American Journal of Medical Genetics. Part A|October 8, 2022
PPP2R1A neurodevelopmental disorder is associated with congenital heart defectsElizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, et al.
HGG Advances|November 5, 2024
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndromeSwetha Ramadesikan, Iftekhar A Showpnil, Mohammad Marhabaie, et al.
Human Molecular Genetics|September 22, 2017
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in miceZhuo Li, Yanyan Peng, Robert B Hufnagel, et al.
Genome Research|May 5, 2012
Mutation mapping and identification by whole-genome sequencingIgnaty Leshchiner, Kristen Alexa, Peter Kelsey, et al.
Nature Communications|January 3, 2024
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial developmentAndrea Wilderman, Eva D'haene, Machteld Baetens, et al.
NPJ Genomic Medicine|December 18, 2024
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromesIftekhar A Showpnil, Maria E Hernandez Gonzalez, Swetha Ramadesikan, et al.
American Journal of Human Genetics|October 25, 2022
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorderReham Khalaf-Nazzal, James Fasham, Katherine A Inskeep, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureAlanna Strong, Soumya Rao, Sandra von Hardenberg, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Pageof 8