Concepedia

Author

Yoon S. Shin

Ludwig-Maximilians-Universität München

Also Known As

Yoon S Shin, Yoon S. Shin, Yoon Shin, Yoon Soon Shin

220

Publications

2.1K

Citations

24

H-Index

77

Concepts

All Affiliations

Ludwig-Maximilians-Universität MünchenMünchen KlinikRuhr University BochumToranomon HospitalFriedrich Baur Stiftung
YS

About

Yoon S. Shin is an author at Ludwig-Maximilians-Universität München specializing in medicine, pathology, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

17

21

834

2

Engineering

2

2

82

3

Health Sciences

2

2

38

4

Natural Sciences

2

2

69

5

Public Health

1

1

30

Yoon S. Shin

×

32

Publications

1.5K

Citations

23

H-Index

YearCitations

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel,

New England Journal of Medicine

2014

279

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Wolfgang Müller‐Felber, Rita Horváth, Klaus Gempel,

Neuromuscular Disorders

2007

236

Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Underlying Glycogenosis Type VI (Hers Disease)

Barbara Burwinkel, H. D. Bakker, Eliezer Herschkovitz,

The American Journal of Human Genetics

1998

94

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

Focke Ziemssen, E. Sindern, J. M. Schr�der,

Annals of Neurology

2000

77

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening

Julia B. Hennermann, Peter Schadewaldt, Barbara Vetter,

Journal of Inherited Metabolic Disease

2011

71

Glutamate in Pyridoxine-Dependent Epilepsy: Neurotoxic Glutamate Concentration in the Cerebrospinal Fluid and Its Normalization by Pyridoxine

Friedrich A. M. Baumeister, Yoon S. Shin, Joseph Egger,

PEDIATRICS

1994

59

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases

Barbara Burwinkel, Bin Hu, Anja Schroers,

European Journal of Human Genetics

2003

55

Performance Characteristics of PTC Elements for an Electric Vehicle Heating System

Yoon S. Shin, Seung‐Eon Ahn, Sung Won Kim

Energies

2016

53

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey

Yoriko Endo, Asako Horinishi, Matthias Vorgerd,

Journal of Human Genetics

2006

49

A mild juvenile variant of type IV glycogenosis

E. Reusche, Fuat Aksu, Hans H. Goebel,

Brain and Development

1992

48

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