An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness

Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.

Human immunology·2002

Intracerebral haemorrhage in neurofibromatosis type I.

Acta neurochirurgica·2001

Botulinum toxin A: a new option for treatment of drooling in children with cerebral palsy. Presentation of a case series.

European journal of pediatrics·2001

Idiopathic neuralgic amyotrophy in children. A distinct phenotype compared to the adult form.

Neuropediatrics·2001

Recurrent alternating facial paralysis and malignant hypertension.

Neuropediatrics·2001

Scheie syndrome presenting as myopathy.

Neuropediatrics·2001

Increased activity of pyridoxal kinase in tongue in Down's syndrome.

Journal of mental deficiency research·1991

Effect of thyroid stimulating hormone on adaptive behaviour in Down's syndrome.

Journal of mental deficiency research·1991

Behavioural observations in children with Down's syndrome.

Journal of mental deficiency research·1991

Mental retardation and WAIS-R difference scores.

Journal of mental deficiency research·1991

The psychometric properties of the Behaviour Assessment Record (the BAR schedule).

Journal of mental deficiency research·1991

Moderate and mild mental retardation in the Martin-Bell syndrome.

Journal of mental deficiency research·1991

Use of fixed-ratio combination of basal insulin and glucagon-like peptide-1 receptor agonists (GLP-1 RAs) in Asians with type 2 diabetes.

Primary care diabetes·2026

Single-cell spatial transcriptomic atlas of the mouse adrenal gland reveals sexual dimorphism in steroidogenic enzyme and hormone receptor expression.

Genomics·2026

Genomic response to sex-separated gene pools.

Evolution; international journal of organic evolution·2026

Androgen-PDH axis modulates sexual dimorphism of mitochondrial respiration in visceral fat.

Cell reports·2026

Gut microbiota profiles and potential biomarkers in pre-pubertal females with ADHD.

Frontiers in microbiology·2026

The complete gustatory connectome of adult Drosophila reveals how taste guides feeding, foraging, and social behavior.

Cell·2026

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An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness

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Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.

Intracerebral haemorrhage in neurofibromatosis type I.

Botulinum toxin A: a new option for treatment of drooling in children with cerebral palsy. Presentation of a case series.

Idiopathic neuralgic amyotrophy in children. A distinct phenotype compared to the adult form.

Recurrent alternating facial paralysis and malignant hypertension.

Scheie syndrome presenting as myopathy.

Increased activity of pyridoxal kinase in tongue in Down's syndrome.

Effect of thyroid stimulating hormone on adaptive behaviour in Down's syndrome.

Behavioural observations in children with Down's syndrome.

Mental retardation and WAIS-R difference scores.

The psychometric properties of the Behaviour Assessment Record (the BAR schedule).

Moderate and mild mental retardation in the Martin-Bell syndrome.

Use of fixed-ratio combination of basal insulin and glucagon-like peptide-1 receptor agonists (GLP-1 RAs) in Asians with type 2 diabetes.

Single-cell spatial transcriptomic atlas of the mouse adrenal gland reveals sexual dimorphism in steroidogenic enzyme and hormone receptor expression.

Genomic response to sex-separated gene pools.

Androgen-PDH axis modulates sexual dimorphism of mitochondrial respiration in visceral fat.

Gut microbiota profiles and potential biomarkers in pre-pubertal females with ADHD.

The complete gustatory connectome of adult Drosophila reveals how taste guides feeding, foraging, and social behavior.

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An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness

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