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Rolf W Stottmann

Showing results (41-50 of 73) with videos related to

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HGG Advances|September 19, 2025
Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomaliesRebekah Rushforth, Kurt Reynolds, Steven I Estes, et al.
American Journal of Medical Genetics. Part A|March 17, 2025
The Society for Craniofacial Genetics and Developmental Biology 47th Annual MeetingPaul A Trainor, Timothy C Cox, David E Clouthier, et al.
Plos One|March 15, 2017
Unique spatiotemporal requirements for intraflagellar transport genes during forebrain developmentJohn Snedeker, Elizabeth N Schock, Jamie N Struve, et al.
Development (Cambridge, England)|January 11, 2018
A mutation in <i>Ccdc39</i> causes neonatal hydrocephalus with abnormal motile cilia development in miceZakia Abdelhamed, Shawn M Vuong, Lauren Hill, et al.
American Journal of Medical Genetics. Part A|November 28, 2020
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental surveyKatherine Abell, Robert J Hopkin, Patricia L Bender, et al.
Plos One|March 28, 2017
A tissue-specific role for intraflagellar transport genes during craniofacial developmentElizabeth N Schock, Jaime N Struve, Ching-Fang Chang, et al.
Genes, Brain, and Behavior|September 6, 2016
A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganizationRolf W Stottmann, Ashley Driver, Arnold Gutierrez, et al.
HGG Advances|January 9, 2026
Recessive AARS1 variants perturb human and mouse developmentJennifer L Watts, Nicole Costantino, Ammar Husami, et al.
Genesis (New York, N.Y. : 2000)|October 31, 2018
Using human sequencing to guide craniofacial researchRyan P Liegel, Erin Finnerty, Lauren Blizzard, et al.
Human Molecular Genetics|March 12, 2015
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasiaHoward M Saal, Cynthia A Prows, Iris Guerreiro, et al.
Pageof 8

Showing results (41-50 of 73) with videos related to

Sort By:
Pageof 8
HGG Advances|September 19, 2025
Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomaliesRebekah Rushforth, Kurt Reynolds, Steven I Estes, et al.
American Journal of Medical Genetics. Part A|March 17, 2025
The Society for Craniofacial Genetics and Developmental Biology 47th Annual MeetingPaul A Trainor, Timothy C Cox, David E Clouthier, et al.
Plos One|March 15, 2017
Unique spatiotemporal requirements for intraflagellar transport genes during forebrain developmentJohn Snedeker, Elizabeth N Schock, Jamie N Struve, et al.
Development (Cambridge, England)|January 11, 2018
A mutation in <i>Ccdc39</i> causes neonatal hydrocephalus with abnormal motile cilia development in miceZakia Abdelhamed, Shawn M Vuong, Lauren Hill, et al.
American Journal of Medical Genetics. Part A|November 28, 2020
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental surveyKatherine Abell, Robert J Hopkin, Patricia L Bender, et al.
Plos One|March 28, 2017
A tissue-specific role for intraflagellar transport genes during craniofacial developmentElizabeth N Schock, Jaime N Struve, Ching-Fang Chang, et al.
Genes, Brain, and Behavior|September 6, 2016
A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganizationRolf W Stottmann, Ashley Driver, Arnold Gutierrez, et al.
HGG Advances|January 9, 2026
Recessive AARS1 variants perturb human and mouse developmentJennifer L Watts, Nicole Costantino, Ammar Husami, et al.
Genesis (New York, N.Y. : 2000)|October 31, 2018
Using human sequencing to guide craniofacial researchRyan P Liegel, Erin Finnerty, Lauren Blizzard, et al.
Human Molecular Genetics|March 12, 2015
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasiaHoward M Saal, Cynthia A Prows, Iris Guerreiro, et al.
Pageof 8