Rett syndrome--observational study of 33 families

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

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Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy.

Neurology·2005

Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy.

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Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.

Neurology·2003

MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy.

Neurology·2003

Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy.

Neurology·2002

Down syndrome critical region around D21S55 on proximal 21q22.3.

American journal of medical genetics. Supplement·1990

Down syndrome: toward a molecular definition of the phenotype.

American journal of medical genetics. Supplement·1990

Down syndrome in Kuwait.

American journal of medical genetics. Supplement·1990

Down syndrome in the Belluno district (Veneto region, northeast Italy): age distribution and morbidity.

American journal of medical genetics. Supplement·1990

Epidemiology of Down syndrome in 118,265 consecutive births.

American journal of medical genetics. Supplement·1990

Incidence, survival, and mortality in Down syndrome in Denmark.

American journal of medical genetics. Supplement·1990

Proteoformics-driven new concept of human growth hormone in clinical endocrinology.

Frontiers in endocrinology·2026

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Single-cell transcriptomics reveals heterogeneous stress responses and Mg2+-mediated survival mechanisms in Lactobacillus delbrueckii subsp. bulgaricus during freeze-drying and storage.

Food research international (Ottawa, Ont.)·2026

RBFOX3 regulates hippocampal transcriptomic programs to maintain synaptic and ultrastructural integrity.

Brain research·2026

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Rett syndrome--observational study of 33 families

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A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy.

Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy.

Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.

MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy.

Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy.

Down syndrome critical region around D21S55 on proximal 21q22.3.

Down syndrome: toward a molecular definition of the phenotype.

Down syndrome in Kuwait.

Down syndrome in the Belluno district (Veneto region, northeast Italy): age distribution and morbidity.

Epidemiology of Down syndrome in 118,265 consecutive births.

Incidence, survival, and mortality in Down syndrome in Denmark.

Proteoformics-driven new concept of human growth hormone in clinical endocrinology.

The 1H, 15N and 13C backbone resonance assignments of an intrinsically disordered region (467-696) of breast cancer type 1 susceptibility protein (BRCA1).

Lamin-ating the genome: quantitative gatekeeping of replication initiation.

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Single-cell transcriptomics reveals heterogeneous stress responses and Mg2+-mediated survival mechanisms in Lactobacillus delbrueckii subsp. bulgaricus during freeze-drying and storage.

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