Patricia S. Darmin

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Publications

Citations

560

H-Index

Active since

2002

Affiliations

Amsterdam UMC Location Vrije Universiteit Amsterdam(Current)

Hadassah Medical Center

Patricia S. Darmin is an author at Amsterdam UMC Location Vrije Universiteit Amsterdam specializing in life sciences, molecular genetics, and human genetics.

Publications per year

2002–2007

Publications

The Tomato <i>R</i> Gene Products I-2 and Mi-1 Are Functional ATP Binding Proteins with ATPase Activity

W.I.L. Tameling, S.D.J. Elzinga, Patricia S. Darmin et al. · The Plant Cell · 2002 · 404 citations · Full text

Life Sciences, Plant Biology, Plant Sciences +16

An intriguing “silent” mutation and a founder effect in <i>antiquitin (ALDH7A1)</i>

Gajja S. Salomons, Levinus A. Bok, Eduard A. Struys et al. · Annals of Neurology · 2007 · 60 citations

Life Sciences, Genetics, Molecular Genetics +16

Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel

Stanley H. Korman, Cornelis Jakobs, Patricia S. Darmin et al. · European Journal of Paediatric Neurology · 2007 · 41 citations

Life Sciences, Biochemistry, Pediatrics +3

Mutations in phenotypically mild <scp>D</scp>‐2‐hydroxyglutaric aciduria

Eduard A. Struys, Stanley H. Korman, Gajja S. Salomons et al. · Annals of Neurology · 2005 · 32 citations

Life Sciences, Genetics, Molecular Genetics +16

A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal

Lígia S. Almeida, Laura Vilarinho, Patricia S. Darmin et al. · Molecular Genetics and Metabolism · 2007 · 23 citations

Life Sciences, Genetics, Molecular Genetics +11

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