Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures

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

Clinical genetics·2016

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

Clinical genetics·2015

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

Clinical genetics·2014

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

European journal of neurology·2013

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Clinical genetics·2012

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Journal of medical genetics·2009

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

MC4R modulates autophagy and pyroptosis regulated by UCP1 in experimental autoimmune uveitis.

Life sciences·2026

Efficacy of a one-week course of topical bromfenac combined with corticosteroid for prevention of pseudophakic cystoid macular edema (PCME).

PloS one·2026

Corbella Extra Virgin Olive Oil, Urinary Phenolic Metabolites, and Exploratory Cardiometabolic Outcomes in Healthy Young Adults: The HEVOOC Trial.

Antioxidants (Basel, Switzerland)·2026

Ocular Involvement in Eyelid Traumatic Lacerations.

The Journal of craniofacial surgery·2026

Pediatric intraorbital wooden foreign body mimicking an orbital mass: Delayed diagnosis and imaging considerations on MRI.

Radiology case reports·2026

Impact of nasal septal deviation on olfactory bulb and olfactory tract morphometry.

Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft·2026

Related Experiment Videos

Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures

Related Concept Videos

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

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

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

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

MC4R modulates autophagy and pyroptosis regulated by UCP1 in experimental autoimmune uveitis.

Efficacy of a one-week course of topical bromfenac combined with corticosteroid for prevention of pseudophakic cystoid macular edema (PCME).

Corbella Extra Virgin Olive Oil, Urinary Phenolic Metabolites, and Exploratory Cardiometabolic Outcomes in Healthy Young Adults: The HEVOOC Trial.

Ocular Involvement in Eyelid Traumatic Lacerations.

Pediatric intraorbital wooden foreign body mimicking an orbital mass: Delayed diagnosis and imaging considerations on MRI.

Impact of nasal septal deviation on olfactory bulb and olfactory tract morphometry.

Related Experiment Videos

Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures

Related Concept Videos

Related Articles