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

Related Experiment Videos

Coffin-Siris syndrome

P Levy1, M Baraitser

  • 1Unidade de Genetica, Hospital de Santa Maria, Faculdade de Medicina, Universidade de Lisboa, Portugal.

Journal of Medical Genetics
|May 1, 1991
PubMed
Summary

No abstract available in PubMed .

Related Experiment Videos

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Natural history, symptoms and treatment of the narcoleptic syndrome.

Acta neurologica Scandinavica·2009
Same author

Characterization of obstructive nonapneic respiratory events in moderate sleep apnea syndrome.

American journal of respiratory and critical care medicine·2001
Same author

Enteral compared with parenteral nutrition: a meta-analysis.

The American journal of clinical nutrition·2001
Same author

[Hyperventilation syndromes: orientations for therapeutic management].

Revue des maladies respiratoires·2001
Same author

[Does the upper respiratory tract high-resistance syndrome exist?].

Revue de pneumologie clinique·2001
Same author

[Achalasia mimicking psychiatric eating disorders].

Gastroenterologie clinique et biologique·2001
Same journal

Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Journal of medical genetics·2026
Same journal

Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

Journal of medical genetics·2026
Same journal

Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

Journal of medical genetics·2026
Same journal

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Journal of medical genetics·2026
Same journal

Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

Journal of medical genetics·2026
Same journal

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome.

Journal of medical genetics·2026
See all related articles