Related Experiment Video

Updated: Jul 14, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.0K

Two case reports of KBG syndrome with Dandy-Walker variant

Tomohiro Tago1, Tomonori Suzuki1, Ayako Kashimada1

  • 1Department of Pediatrics, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.

Pediatrics International : Official Journal of the Japan Pediatric Society
|August 21, 2021
PubMed
Abstract

No abstract available in PubMed .

Keywords:
ANKRD11Dandy-Walker variantKBG syndromeMRI

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.9K
Applying the RatWalker System for Gait Analysis in a Genetic Rat Model of Parkinson's Disease
04:08

Applying the RatWalker System for Gait Analysis in a Genetic Rat Model of Parkinson's Disease

Published on: January 18, 2021

3.0K

Related Experiment Videos

Last Updated: Jul 14, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.0K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.9K
Applying the RatWalker System for Gait Analysis in a Genetic Rat Model of Parkinson's Disease
04:08

Applying the RatWalker System for Gait Analysis in a Genetic Rat Model of Parkinson's Disease

Published on: January 18, 2021

3.0K

Related Concept Videos

Diabetic Ketoacidosis l: Introduction01:25

Diabetic Ketoacidosis l: Introduction

DefinitionDiabetic ketoacidosis (DKA) is an acute, life-threatening complication of diabetes mellitus, characterized by a triad of hyperglycemia (blood glucose >250 mg/dL), ketonemia or ketonuria, and metabolic acidosis (arterial pH <7.30 and serum bicarbonate <18 mEq/L). It results from insulin deficiency combined with elevated levels of counterregulatory hormones—glucagon, catecholamines, cortisol, and growth hormone—leading to increased lipolysis, hepatic ketone production, and...
Diabetic Ketoacidosis ll: Pathophysiology01:22

Diabetic Ketoacidosis ll: Pathophysiology

Diabetic ketoacidosis (DKA) is a metabolic emergency characterized by hyperglycemia, ketonemia, and metabolic acidosis. It results from severe insulin deficiency and an excess of counterregulatory hormones, leading to uncontrolled lipolysis, ketogenesis, and widespread electrolyte and fluid disturbances.Pathophysiology The central event in DKA is a profound loss of insulin action. Without insulin, glucose uptake in insulin-dependent tissues is impaired, while hepatic glucose production...

Articles linked to this work by shared authors, journal, and citation graph.

The Role of Hematopoietic Cell Transplantation in Ataxia-Telangiectasia.

Pediatric blood & cancer·2026

Public acceptance and attitudes toward procedures performed by medical students in Japan: a nationwide online survey.

BMC medical education·2026

Polyclonal evolution of lymphoproliferative disorders in XLP1.

Journal of human immunity·2026

Sudden anaerobization in Amphibacillus xylanus increases intracellular labile ferrous iron and inhibits cell growth.

FEBS open bio·2026

Clinical Usefulness of Selective Plasma Exchange for Treating Pediatric Autoimmune Neurological Diseases.

Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy·2026

Selective Toxicity of Nicotinic Insecticides: Responsibility of Varied Amino Acid(s) in the Ligand-Docking Pocket between Insect versus Mammalian Nicotinic Acetylcholine Receptors.

Chemical research in toxicology·2026

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Age and Gender Differences in COVID-19 Lockdown Impacts on Childhood BMI: A Japanese Longitudinal Study.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Incidence and Long-Term Outcomes of Pediatric Tracheostomy in Japan: A Cohort Study Using a Japanese Claims Database.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Resurgence of Macrolide-Resistant Mycoplasma pneumoniae After the COVID-19 Pandemic at a Children's Hospital in Japan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

High-Flow Nasal Cannula Versus Conventional Therapy After Slide Tracheoplasty.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Concomitant Antiseizure Medications' Influence on Valproic Acid and Levetiracetam Pharmacokinetics in Pediatric Patients.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Personalized Pain Management in Orthodontic Treatment: A Narrative Review of Biological, Psychological, and Clinical Determinants.

Cureus·2026

Prevalence of Traumatic Dental Injuries in 12-Year-Old Adolescents in Brazil: A Comparative Analysis of 2010 and 2023.

Dental traumatology : official publication of International Association for Dental Traumatology·2026

Impact of ROI size on fractal dimension values in radiographs using a novel ROI selection method.

Journal of stomatology, oral and maxillofacial surgery·2026

Traumatic Posterior Atlantoaxial Dislocation with Intact Odontoid Treated by C2 Laminar Screw Fixation: A Case Report.

International medical case reports journal·2026

Alendronate-induced morphological changes in osteoclasts and eroded pores during cortical bone remodeling in lactating Sprague Dawley rats.

Bone·2026

Impact of reducing aligners' wear schedule from 7-days to 3-days on the predictability of tooth movement and treatment efficiency: a randomized controlled trial.

Clinical oral investigations·2026
See all related articles
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
Jove
Visualize
Contact Us