Cerebro-fronto-facial syndrome: three types?

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

European journal of medical genetics·2006

Kohlschutter syndrome in siblings.

Clinical dysmorphology·2005

Diagnosis in dysmorphology: clues from the skin.

The British journal of dermatology·2004

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

American journal of medical genetics. Part A·2004

Familial syndromic duodenal atresia: Feingold syndrome.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie·2004

Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.

Neuropediatrics·2003

Monochorionic dizygotic twins with discordant genetic findings and congenital malformations.

Clinical dysmorphology·2026

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Clinical dysmorphology·2026

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Clinical dysmorphology·2026

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

Clinical dysmorphology·2026

Advances in Transcranial Direct Current Stimulation for Poststroke Balance Recovery: Current Evidence, State-of-the-Art Mapping, and Future Directions.

Neuromodulation : journal of the International Neuromodulation Society·2026

The Treatment of Subdural Collections in Patients With Shunted Normal Pressure Hydrocephalus: A Single-Center Experience.

Neurosurgery·2026

Ultrasound-Guided Perineural Corticosteroid Injection and Dextrose Hydrodissection for Carpal Tunnel Syndrome: Current Evidence and Clinical Considerations.

Cureus·2026

Identification and validation of circadian rhythm and astrocyte-associated diagnostic and therapeutic model for cirrhosis encephalopathy patients via integrative bioinformatic pipelines and in vitro validation.

Frontiers in neuroscience·2026

Gut microbiota-mediated neuroinflammation following stroke: mechanisms and intervention strategies.

Journal of translational medicine·2026

Isolated brainstem death: case presentation demonstrating preserved supratentorial perfusion on 99mTc-bicisate brain scintigraphy.

EJNMMI reports·2026

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Cerebro-fronto-facial syndrome: three types?

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European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

Kohlschutter syndrome in siblings.

Diagnosis in dysmorphology: clues from the skin.

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

Familial syndromic duodenal atresia: Feingold syndrome.

Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.

Monochorionic dizygotic twins with discordant genetic findings and congenital malformations.

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

Advances in Transcranial Direct Current Stimulation for Poststroke Balance Recovery: Current Evidence, State-of-the-Art Mapping, and Future Directions.

The Treatment of Subdural Collections in Patients With Shunted Normal Pressure Hydrocephalus: A Single-Center Experience.

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Identification and validation of circadian rhythm and astrocyte-associated diagnostic and therapeutic model for cirrhosis encephalopathy patients via integrative bioinformatic pipelines and in vitro validation.

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