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Co-authors
(554)
Georg Friedrich Hoffmann
47
Martin Lindner
15
Ertan Mayatepek
12
Peter Burgard
9
Georg F. Hoffmann
9
Journals
(48)
J INHERIT METAB DIS
27
HUM MUTAT
16
MOL GENET METAB
8
EUR J PEDIAT
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PEDIAT RES
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Authors
Johannes Zschocke
Johannes Zschocke,Medizinische Universität Innsbruck,Genetics & Genealogy,Family Medicine,Neuroscience
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Johannes Zschocke
Medizinische Universität Innsbruck
Publications:
133
|
Citations:
1469
Fields:
Genetics & Genealogy
,
Family Medicine
,
Neuroscience
View FAQ about top research areas and Fields of study
Collaborated with
554 co-authors
from 1994 to 2012
|
Cited by
3946 authors
Cumulative
Annual
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Publications
(133)
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Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations
M. Höckner
,
A. Spreiz
,
A. Frühmesser
,
A. Tzschach
,
A. Dufke
,
O. Rittinger
,
V. Kalscheuer
,
S. Singer
,
M. Erdel
,
C. Fauth
,
V. Grossmann
,
G. Utermann
J. Zschocke
http://academic.research.microsoft.com/io.ashx?type=5&id=57352814&selfId1=4587344&selfId2=0&maxNumber=12&query=
Journal:
Cytogenetic and Genome Research - CYTOGENET GENOME RES
, vol. 136, pp. 242-245, 2012
Clinical utility gene card for: Phenylketonuria
Johannes Zschocke
,
Thomas Haverkamp
,
Lisbeth Birk Møller
Journal:
European Journal of Human Genetics - EUR J HUMAN GENET
, vol. 20, no. 2, 2012
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry
Osama Y. Al-Dirbashi
,
Stefan Kölker
,
Dione Ng
,
Lawrence Fisher
,
Tony Rupar
,
Nathalie Lepage
,
Mohamed S. Rashed
,
Tomofumi Santa
,
Stephen I. Goodman
,
Michael T. Geraghty
,
Johannes Zschocke
,
Ernst Christensen
http://academic.research.microsoft.com/io.ashx?type=5&id=47616812&selfId1=4587344&selfId2=0&maxNumber=12&query=
Journal:
Journal of Inherited Metabolic Disease - J INHERIT METAB DIS
, vol. 34, no. 1, pp. 173-180, 2011
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene
Franco Laccone
,
Katharina Schoner
,
Birgit Krabichler
,
Britta Kluge
,
Robin Schwerdtfeger
,
Bernt Schulze
,
Johannes Zschocke
,
Helga Rehder
Journal:
European Journal of Human Genetics - EUR J HUMAN GENET
, vol. 19, no. 11, pp. 1133-1137, 2011
A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival
(
Citations: 4
)
Katharina Rauschenberger
,
Katja Schöler
,
Jörn Oliver Sass
,
Sven Sauer
,
Zdenka Djuric
,
Cordula Rumig
,
Nicole I. Wolf
,
Jürgen G. Okun
,
Stefan Kölker
,
Heinz Schwarz
,
Christine Fischer
,
Beate Grziwa
Johannes Zschocke
http://academic.research.microsoft.com/io.ashx?type=5&id=33532338&selfId1=4587344&selfId2=0&maxNumber=12&query=
Journal:
Embo Molecular Medicine - EMBO MOL MED
, vol. 2, no. 2, pp. 51-62, 2010
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Citations
(1469 times by 974 publications)
Clinical utility gene card for: Trimethylaminuria
Elizabeth A Shephard
,
Eileen P Treacy
,
Ian R Phillips
Journal:
European Journal of Human Genetics - EUR J HUMAN GENET
, vol. 20, no. 3, 2012
Clinical utility gene card for: Phenylketonuria
Johannes Zschocke
,
Thomas Haverkamp
,
Lisbeth Birk Møller
Journal:
European Journal of Human Genetics - EUR J HUMAN GENET
, vol. 20, no. 2, 2012
Epilepsy in Children—When Should We Think Neurometabolic Disease?
Radhika Dhamija
,
Marc C. Patterson
,
Elaine C. Wirrell
Journal:
Journal of Child Neurology - JCN
, vol. 27, no. 5, pp. 663-671, 2012
Restless legs syndrome
(
Citations: 22
)
Lynn marie Trotti
,
Claudia Trenkwalder
,
B. Bioulac
,
F. Tison
,
I. Ghorayeb
Journal:
Handbook of Clinical Neurology
, vol. 100, no. 3, pp. 661-673, 2011
Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation
(
Citations: 8
)
Michelle D. Sluiter
,
Elizabeth J. van Rensburg
Journal:
Breast Cancer Research and Treatment - BREAST CANCER RES TREAT
, vol. 125, no. 2, pp. 325-349, 2011
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