The oculocerebrocutaneous (Delleman) syndrome

Assessment of the optic nerve using strain and shear-wave elastography in patients with pseudotumour cerebri.

Clinical radiology·2020

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Clinical genetics·2016

Interleukin-6 and C-reactive protein load in pre-storage and post-storage white blood cell-filtered red blood cell transfusions in premature infants.

Transfusion medicine (Oxford, England)·2015

Dysmorphology services: a snapshot of current practices and a vision for the future.

Clinical genetics·2015

Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report.

Genetic counseling (Geneva, Switzerland)·2014

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Clinical genetics·2014

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Journal of medical genetics·2026

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

Journal of medical genetics·2026

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

Journal of medical genetics·2026

Functional characterisation and pathological significance of variants of MEF2C promoter in tetralogy of Fallot.

Journal of medical genetics·2026

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

Journal of medical genetics·2026

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

Journal of medical genetics·2026

Time-of-Day Effects on Postural Balance in Blind Children: A Cross-Sectional Comparative Study.

Health science reports·2026

Retinopathy as a Presenting Feature of Life-threatening Blood Cancer in a Young Male.

Annals of African medicine·2026

Effects of periocular botulinum toxin injection on ocular surface parameters and pupillary dynamics: a prospective clinical study.

International ophthalmology·2026

Patterns of appointment cancellations and no-shows across and within ophthalmology subspecialties.

Eye (London, England)·2026

Bilateral Combined Retinal Vasculitis With Multiple Cotton Wool Spot-Like Lesions.

Ophthalmic surgery, lasers & imaging retina·2026

Restoration of Saccadic Eye Movements and Visually Guided Behavior in Ambient White Light with Photoswitchable Small Molecules.

Journal of the American Chemical Society·2026

Related Experiment Videos

The oculocerebrocutaneous (Delleman) syndrome

Related Concept Videos

Assessment of the optic nerve using strain and shear-wave elastography in patients with pseudotumour cerebri.

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Interleukin-6 and C-reactive protein load in pre-storage and post-storage white blood cell-filtered red blood cell transfusions in premature infants.

Dysmorphology services: a snapshot of current practices and a vision for the future.

Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Frequent <i>FBN2</i> variants in pectus excavatum highlight underlying phenotypic variability.

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

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

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

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

Time-of-Day Effects on Postural Balance in Blind Children: A Cross-Sectional Comparative Study.

Retinopathy as a Presenting Feature of Life-threatening Blood Cancer in a Young Male.

Effects of periocular botulinum toxin injection on ocular surface parameters and pupillary dynamics: a prospective clinical study.

Patterns of appointment cancellations and no-shows across and within ophthalmology subspecialties.

Bilateral Combined Retinal Vasculitis With Multiple Cotton Wool Spot-Like Lesions.

Restoration of Saccadic Eye Movements and Visually Guided Behavior in Ambient White Light with Photoswitchable Small Molecules.

Related Experiment Videos

The oculocerebrocutaneous (Delleman) syndrome

Related Concept Videos

Related Articles