Genetic and biochemical determinations in the pre-transplant workup and in the post-transplant assessment period

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

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Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Clinical genetics·2017

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Clinical genetics·2015

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.

Clinical genetics·2015

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

Clinical genetics·2014

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Clinical genetics·2013

Protein-Centric Biochemistry Laboratory Experiments from Protein Quantification to Proteomics.

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Recent Applications of Mass Spectrometry at Clarkson University: An Update.

Advances in experimental medicine and biology·2026

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Current oncology (Toronto, Ont.)·2026

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Cells·2026

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Journal of human immunity·2026

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Journal of chemical information and modeling·2026

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FASEB journal : official publication of the Federation of American Societies for Experimental Biology·2026

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International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics·2026

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Genetic and biochemical determinations in the pre-transplant workup and in the post-transplant assessment period

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A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.

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