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Alice S Brooks

Showing results (21-30 of 62) with videos related to

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Human Molecular Genetics|July 13, 2010
KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiationMaria M Alves, Grzegorz Burzynski, Jean-Marie Delalande, et al.
American Journal of Medical Genetics. Part A|November 16, 2019
An overview of health issues and development in a large clinical cohort of children with Angelman syndromeKaren G C B Bindels-de Heus, Sabine E Mous, Maartje Ten Hooven-Radstaake, et al.
Human Reproduction (Oxford, England)|January 7, 2017
Previous miscarriages and GLI2 are associated with anorectal malformations in offspringRomy van de Putte, Charlotte H W Wijers, Ivo de Blaauw, et al.
Human Molecular Genetics|August 18, 2022
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstructionAlmira Zada, Yuying Zhao, Danny Halim, et al.
Orphanet Journal of Rare Diseases|June 27, 2020
ERNICA guidelines for the management of rectosigmoid Hirschsprung's diseaseKristiina Kyrklund, Cornelius E J Sloots, Ivo de Blaauw, et al.
American Journal of Medical Genetics. Part A|July 23, 2013
Novel no-stop FLNA mutation causes multi-organ involvement in malesRenske Oegema, Jessie M Hulst, Sabine D M Theuns-Valks, et al.
American Journal of Human Genetics|May 11, 2005
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systemsAlice S Brooks, Aida M Bertoli-Avella, Grzegorz M Burzynski, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 21, 2014
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformationsCharlotte H W Wijers, Ivo de Blaauw, Nadine Zwink, et al.
Gastroenterology|March 31, 2018
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung DiseaseYunia Sribudiani, Rajendra K Chauhan, Maria M Alves, et al.
Birth Defects Research|April 17, 2020
Infantile hypertrophic pyloric stenosis in patients with esophageal atresiaChantal A Ten Kate, Rutger W W Brouwer, Yolande van Bever, et al.
Pageof 7

Showing results (21-30 of 62) with videos related to

Sort By:
Pageof 7
Human Molecular Genetics|July 13, 2010
KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiationMaria M Alves, Grzegorz Burzynski, Jean-Marie Delalande, et al.
American Journal of Medical Genetics. Part A|November 16, 2019
An overview of health issues and development in a large clinical cohort of children with Angelman syndromeKaren G C B Bindels-de Heus, Sabine E Mous, Maartje Ten Hooven-Radstaake, et al.
Human Reproduction (Oxford, England)|January 7, 2017
Previous miscarriages and GLI2 are associated with anorectal malformations in offspringRomy van de Putte, Charlotte H W Wijers, Ivo de Blaauw, et al.
Human Molecular Genetics|August 18, 2022
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstructionAlmira Zada, Yuying Zhao, Danny Halim, et al.
Orphanet Journal of Rare Diseases|June 27, 2020
ERNICA guidelines for the management of rectosigmoid Hirschsprung's diseaseKristiina Kyrklund, Cornelius E J Sloots, Ivo de Blaauw, et al.
American Journal of Medical Genetics. Part A|July 23, 2013
Novel no-stop FLNA mutation causes multi-organ involvement in malesRenske Oegema, Jessie M Hulst, Sabine D M Theuns-Valks, et al.
American Journal of Human Genetics|May 11, 2005
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systemsAlice S Brooks, Aida M Bertoli-Avella, Grzegorz M Burzynski, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 21, 2014
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformationsCharlotte H W Wijers, Ivo de Blaauw, Nadine Zwink, et al.
Gastroenterology|March 31, 2018
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung DiseaseYunia Sribudiani, Rajendra K Chauhan, Maria M Alves, et al.
Birth Defects Research|April 17, 2020
Infantile hypertrophic pyloric stenosis in patients with esophageal atresiaChantal A Ten Kate, Rutger W W Brouwer, Yolande van Bever, et al.
Pageof 7