Related Experiment Video

Updated: Jul 18, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

Novel ELANE mutation causing severe congenital neutropenia with unpredictable fluctuations in neutrophil counts

Joanna Cachia1, David J Camilleri2, David Pace1

  • 1Department of Child and Adolescent Health, Mater Dei Hospital, Triq id-Donaturi tad-Demm, Msida, Malta.

Pediatric Blood & Cancer
|August 19, 2023
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells
10:21

Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells

Published on: February 21, 2018

10.0K
A Simple Approach to Induce Experimental Autoimmune Neuritis in C57BL/6 Mice for Functional and Neuropathological Assessments
07:30

A Simple Approach to Induce Experimental Autoimmune Neuritis in C57BL/6 Mice for Functional and Neuropathological Assessments

Published on: November 9, 2017

9.4K

Related Experiment Videos

Last Updated: Jul 18, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells
10:21

Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells

Published on: February 21, 2018

10.0K
A Simple Approach to Induce Experimental Autoimmune Neuritis in C57BL/6 Mice for Functional and Neuropathological Assessments
07:30

A Simple Approach to Induce Experimental Autoimmune Neuritis in C57BL/6 Mice for Functional and Neuropathological Assessments

Published on: November 9, 2017

9.4K

Related Concept Videos

Lethal Alleles02:41

Lethal Alleles

15.6K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.6K

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

Outcomes and experiences of Indigenous patients in Newfoundland and Labrador's bariatric surgery program: a pilot study.

Canadian journal of surgery. Journal canadien de chirurgie·2025

Neuroendocrine Breast Cancer-Associated Ectopic Adrenocorticotropic Hormone Syndrome Requiring Bilateral Adrenalectomy.

Current oncology (Toronto, Ont.)·2025

GSK3 inhibition ameliorates the abnormal contractility of Newfoundland ACM patient iPSC-cardiomyocytes.

American journal of physiology. Cell physiology·2025

Management of a traumatic superior mesenteric artery injury using superselective angioembolization.

Journal of vascular surgery cases and innovative techniques·2025

Laparoscopic bariatric surgery with hysterectomy for endometrial cancer to improve long-term outcomes: A review article.

International journal of gynecological cancer : official journal of the International Gynecological Cancer Society·2025

Challenges and opportunities in providing high-quality surgical care in Canada.

Canadian journal of surgery. Journal canadien de chirurgie·2023

Pain Management After Pediatric Hematopoietic Cell Transplantation: A Narrative Review of Pain Phenotypes, Assessment, and Multimodal Care.

Pediatric blood & cancer·2026

A Three-Component Immune Framework Stratifies Treatment Response and Escalation in Pediatric Hemophagocytic Lymphohistiocytosis: A Prospective Single-Center Cohort Study.

Pediatric blood & cancer·2026

Safety and Effectiveness of a High-Dose, Tailored Tissue Plasminogen Activator Therapy Protocol: A Joint Pediatric Hematology and Cardiac ICU Quality Improvement Initiative Analysis.

Pediatric blood & cancer·2026

Pain in Children and Adolescents With Low-Flow Vascular Malformation and Its Relation to Thrombosis.

Pediatric blood & cancer·2026

Global Efforts to Reduce Paediatric Cancer Care Disparities in Radiotherapy: A Decade Change.

Pediatric blood & cancer·2026

Provider and Parent Perspectives on Prioritizing the "Asking and Monitoring" Pediatric Cancer Psychosocial Standards of Care.

Pediatric blood & cancer·2026

Perforated duodenal tuberculosis with pancreaticobiliary disruption requiring salvage pancreaticoduodenectomy: a case report.

Journal of surgical case reports·2026

Factors Associated With Delay in Seeking Medical Care Among Breast Cancer Patients in Bangladesh.

Cureus·2026

Quality of Life Measurement Tools in Interventions for Anxiety and Depressive Disorders: A Systematic Literature Review in Global Settings.

Neuropsychiatric disease and treatment·2026

Acute kidney injury and liver damage are the most common forms of end organ damage in exertional heat illness in otherwise healthy young adults.

Temperature (Austin, Tex.)·2026

Age at Menarche, Cardiometabolic Disease Prevalence, and Disease Control in Korean Women: Analysis of the Korea National Health and Nutrition Examination Survey.

International journal of medical sciences·2026

Infection-driven cancers in Asia: implications from epidemiological transitions.

The Lancet regional health. Western Pacific·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