Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Alice S Brooks

Showing results (31-40 of 62) with videos related to

Pageof 7
Sort By:
International Journal of Molecular Sciences|November 27, 2021
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a ModelKatherine C MacKenzie, Rhiana Garritsen, Rajendra K Chauhan, et al.
JCI Insight|March 22, 2024
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndromeAvinaash V Maharaj, Emily Cottrell, Thatchawan Thanasupawat, et al.
Human Molecular Genetics|December 10, 2015
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Robert M W Hofstra, Luca Signorile, et al.
Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Acta Obstetricia Et Gynecologica Scandinavica|November 29, 2020
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomaliesKarin E M Diderich, Kathleen Romijn, Marieke Joosten, et al.
Plos Genetics|August 6, 2021
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system developmentLaura E Kuil, Katherine C MacKenzie, Clara S Tang, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 16, 2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and miceDanny Halim, Michael P Wilson, Daniel Oliver, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
European Journal of Human Genetics : EJHG|July 21, 2016
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistulaErwin Brosens, Florian Marsch, Elisabeth M de Jong, et al.
Journal of the American Society of Nephrology : JASN|April 3, 2021
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural DeafnessKarl P Schlingmann, Aparna Renigunta, Ewout J Hoorn, et al.
Pageof 7

Showing results (31-40 of 62) with videos related to

Sort By:
Pageof 7
International Journal of Molecular Sciences|November 27, 2021
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a ModelKatherine C MacKenzie, Rhiana Garritsen, Rajendra K Chauhan, et al.
JCI Insight|March 22, 2024
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndromeAvinaash V Maharaj, Emily Cottrell, Thatchawan Thanasupawat, et al.
Human Molecular Genetics|December 10, 2015
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Robert M W Hofstra, Luca Signorile, et al.
Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Acta Obstetricia Et Gynecologica Scandinavica|November 29, 2020
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomaliesKarin E M Diderich, Kathleen Romijn, Marieke Joosten, et al.
Plos Genetics|August 6, 2021
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system developmentLaura E Kuil, Katherine C MacKenzie, Clara S Tang, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 16, 2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and miceDanny Halim, Michael P Wilson, Daniel Oliver, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
European Journal of Human Genetics : EJHG|July 21, 2016
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistulaErwin Brosens, Florian Marsch, Elisabeth M de Jong, et al.
Journal of the American Society of Nephrology : JASN|April 3, 2021
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural DeafnessKarl P Schlingmann, Aparna Renigunta, Ewout J Hoorn, et al.
Pageof 7