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J. A. Mayr
J. A. Mayr
Boston Children's Hospital
Internal medicine
Endocrinology
Biology
Genetics
Joubert syndrome
3
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84
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MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
2016
European Journal of Medical Genetics
Ingrid Bader
Eva Decker
J. A. Mayr
V. Lunzer
J. Koch
Eugen Boltshauser
W. Sperl
P. Pietsch
B. Ertl-Wagner
Hanno J. Bolz
C. Bergmann
Olaf Rittinger
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Citations (11)
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism
2005
Journal of Inherited Metabolic Disease
Rita Horvath
Peter Freisinger
R. Rubio
T. Merl
R. Bax
J. A. Mayr
Shawan
J. Müller-Höcker
D. Pongratz
Lisbeth Birk Møller
Nina Horn
Michaela Jaksch
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Citations (20)
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
2003
Journal of Inherited Metabolic Disease
Sandy Budde
L.P.W.J. van den Heuvel
R. Smeets
D. Skladal
J. A. Mayr
Carolien C. A. Boelen
Vittoria Petruzzella
Sergio Papa
J.A.M. Smeitink
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Citations (53)
1