Related Experiment Video

Updated: Jun 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K

Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients

Fahmida Essop1, Bronwyn Dillon2, Felicity Mhlongo2

  • 1Division of Human Genetics, National Health Laboratory Service and School of Pathology, The University of the Witwatersrand, Johannesburg, South Africa. fahmida.essop@nhls.ac.za.

European Journal of Human Genetics : EJHG
|July 30, 2024
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Author Spotlight: Repetitive Transcranial Magnetic Stimulation Combined with Movement Observation in Cerebral Palsy
07:20

Author Spotlight: Repetitive Transcranial Magnetic Stimulation Combined with Movement Observation in Cerebral Palsy

Published on: August 9, 2024

1.1K
Event-related Potentials During Target-response Tasks to Study Cognitive Processes of Upper Limb Use in Children with Unilateral Cerebral Palsy
08:26

Event-related Potentials During Target-response Tasks to Study Cognitive Processes of Upper Limb Use in Children with Unilateral Cerebral Palsy

Published on: January 11, 2016

12.1K

Related Experiment Videos

Last Updated: Jun 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K
Author Spotlight: Repetitive Transcranial Magnetic Stimulation Combined with Movement Observation in Cerebral Palsy
07:20

Author Spotlight: Repetitive Transcranial Magnetic Stimulation Combined with Movement Observation in Cerebral Palsy

Published on: August 9, 2024

1.1K
Event-related Potentials During Target-response Tasks to Study Cognitive Processes of Upper Limb Use in Children with Unilateral Cerebral Palsy
08:26

Event-related Potentials During Target-response Tasks to Study Cognitive Processes of Upper Limb Use in Children with Unilateral Cerebral Palsy

Published on: January 11, 2016

12.1K

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

150
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
150
Attention-Deficit/Hyperactivity Disorder01:30

Attention-Deficit/Hyperactivity Disorder

51
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
51

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

Erratum: Temperature Dependence of ρ- and a_{1}-Meson Masses and Mixing of Vector and Axial-Vector Correlators [Phys. Rev. Lett. 88, 042002 (2002)].

Physical review letters·2026

Toward Additive-Aware Dietary Guidance in Chronic Kidney Disease: Research Gaps and Future Directions.

Seminars in nephrology·2026

Recommendations for the management of frailty in chronic kidney disease: a consensus report.

Nature reviews. Nephrology·2026

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.

Molecular genetics & genomic medicine·2026

The Value of Lung Biopsy in Infants up to 3 Months With Diffuse Lung Disease in a Resource-Limited Setting.

Canadian respiratory journal·2026

Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.

European journal of human genetics : EJHG·2026

Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis.

European journal of human genetics : EJHG·2026

Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications.

European journal of human genetics : EJHG·2026

Maternal perspectives on sharing newborn genomic data.

European journal of human genetics : EJHG·2026

RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia.

European journal of human genetics : EJHG·2026

Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization.

European journal of human genetics : EJHG·2026

Characterisation of a Portuguese origin founder missense variant in MSH6.

European journal of human genetics : EJHG·2026

De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes.

American journal of human genetics·2026

Elucidating pH-Dependent Silica Removal Mechanisms in Aluminum-Based Coagulation.

Environmental science & technology·2026

Applicability of a miniaturized precipitation assay as an early-stage screening tool for prototype formulation development.

International journal of pharmaceutics: X·2026

Waste-to-resource: utilizing soot as a performing adsorbent for rhodamine B. structural characterization and process optimization.

RSC advances·2026

Expansion of a paints and coatings solvent guide. Combining solvent guides and Hansen solubility parameters for greener solvent and solvent mixture selection.

RSC sustainability·2026

Stereosynthesis of stationary phase with precision defined separation selectivity.

Chemical science·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