Two kindreds with a sex-linked recessive form of spastic paraplegia

Combination of flow cytometry and functional imaging for monitoring of residual disease in myeloma.

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Investigating the feasibility of tumour molecular profiling in gastrointestinal malignancies in routine clinical practice.

Annals of oncology : official journal of the European Society for Medical Oncology·2018

Spatial genomic heterogeneity in multiple myeloma revealed by multi-region sequencing.

Nature communications·2017

Prediction of outcome in newly diagnosed myeloma: a meta-analysis of the molecular profiles of 1905 trial patients.

Leukemia·2017

Overexpression of EZH2 in multiple myeloma is associated with poor prognosis and dysregulation of cell cycle control.

Blood cancer journal·2017

Bi-allelic inactivation is more prevalent at relapse in multiple myeloma, identifying RB1 as an independent prognostic marker.

Blood cancer journal·2017

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Birth defects original article series·1996

Multisite neural tube closure in humans.

Birth defects original article series·1996

SLC52A3-Related Riboflavin Transporter Deficiency in Two Saudi Siblings: A Case Report.

Cureus·2026

Equidistance between primary sensory-motor landmarks shapes functional specialisation in the human brain.

The Journal of neuroscience : the official journal of the Society for Neuroscience·2026

Brachydactyly Type A1 Caused by an IHH Variant in a Patient with Disproportionate Short Stature: A Case Report.

Reports (MDPI)·2026

Lipodystrophy in Central Asia: A Regional Literature Review with a Case Series of Congenital and Acquired Generalized Lipodystrophy.

Metabolites·2026

Sex Steroid Hormone Signaling Tunes Metabolic and Neuronal Programs in Human Cortical Development.

Research square·2026

Single-cell transcriptomic and epigenomic analysis reveals X-linked sex differences in aging mouse hypothalamus.

bioRxiv : the preprint server for biology·2026

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