Sjögren-Larsson syndrome. Report of two cases in twins

Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency.

Journal of inherited metabolic disease·1998

Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors.

Cancer research·1998

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Journal of medical genetics·1998

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

Human molecular genetics·1997

Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness.

Annales de genetique·1997

[Acute basal ganglia necrosis with favorable course during Mycoplasma encepahlitis].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·1996

Diagnostic Utility of Novel and Established Spinal MRI Signs in AQP4-IgG-Seropositive NMOSD Myelitis.

Neurology·2026

Diagnostic Yield and Therapeutic Impact of Etiologic Investigations After Status Epilepticus: Insights From the ICTAL Registry.

Neurology·2026

Diagnosis, Treatment, and Prognosis of Cerebral Venous Thrombosis.

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Vascular Imaging Features and Time-Specific Recurrence Risk After Craniocervical Artery Dissection.

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Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.

Neurology·2026

Factor XIa Inhibitors for Secondary Prevention After Noncardioembolic Stroke: A Systematic Review and Meta-Analysis.

Neurology·2026

The lipid raft-linker gene Raftlin-2 is expressed in migrating neural crest cells.

Differentiation; research in biological diversity·2026

Language enjoyment and emotional engagement: are they distinct or congruent constructs?

Frontiers in psychology·2026

Vertebral formula variability is coupled with spinal cord anatomy changes in the spiny mice.

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

Dual-route processing of horizontally and vertically jumbled Chinese words: evidence from ND250 and LAN.

Frontiers in psychology·2026

Effectiveness of low vision rehabilitation on visual function and quality of life in Sub-Saharan Africa: a systematic review.

Frontiers in rehabilitation sciences·2026

Factors Associated With Bilateral Involvement in Non-Infectious Labyrinthitis: A Case-Control Study.

The Laryngoscope·2026

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Sjögren-Larsson syndrome. Report of two cases in twins

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Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency.

Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors.

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness.

[Acute basal ganglia necrosis with favorable course during Mycoplasma encepahlitis].

Diagnostic Utility of Novel and Established Spinal MRI Signs in AQP4-IgG-Seropositive NMOSD Myelitis.

Diagnostic Yield and Therapeutic Impact of Etiologic Investigations After Status Epilepticus: Insights From the ICTAL Registry.

Diagnosis, Treatment, and Prognosis of Cerebral Venous Thrombosis.

Vascular Imaging Features and Time-Specific Recurrence Risk After Craniocervical Artery Dissection.

Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.

Factor XIa Inhibitors for Secondary Prevention After Noncardioembolic Stroke: A Systematic Review and Meta-Analysis.

The lipid raft-linker gene Raftlin-2 is expressed in migrating neural crest cells.

Language enjoyment and emotional engagement: are they distinct or congruent constructs?

Vertebral formula variability is coupled with spinal cord anatomy changes in the spiny mice.

Dual-route processing of horizontally and vertically jumbled Chinese words: evidence from ND250 and LAN.

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Sjögren-Larsson syndrome. Report of two cases in twins

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