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1 . Academic Journal
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum
저자
by
Bader, Ingrid
;
Decker, E.
;
Mayr, J.A.
;
Lunzer, V.
;
Koch, J.
, et al.
소스
In
European Journal of Medical Genetics
August 2016 59(8):386-391
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7 . Academic Journal
532 Variable but distinct metabolic signature in malignant melanoma
저자
by
Lang, R.
;
Feichtinger, R.G.
;
Geilberger, R.
;
Rathje, F.
;
Mayr, J.A.
, et al.
소스
In
Journal of Investigative Dermatology
October 2017 137(10) Supplement 2:S283-S283
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7 .
Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions
저자
by
Feichtinger, R.G.
;
Preisel, M.
;
Brugger, K.
;
Wortmann, S.B.
;
Mayr, J.A.
.
소스
Genes, 14, 6
Open Access (OpenAIRE)
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7 . Academic Journal
Mitochondriopathien. (German)
저자
by
Sperl, W.
;
Prokisch, H.
;
Karall, D.
;
Mayr, J.A.
;
Freisinger, P.
.
소스
Monatsschrift Kinderheilkunde; Sep2011, Vol. 159 Issue 9, p848-854, 7p
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7 . Academic Journal
Deficiency of mitochondrial ATP synthase of nuclear genetic origin
저자
by
Sperl, W.
;
Ješina, P.
;
Zeman, J.
;
Mayr, J.A.
;
DeMeirleir, L.
, et al.
소스
Neuromuscular Disorders
. Dec2006, Vol. 16 Issue 12, p821-829. 9p.
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7 .
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies
저자
by
Feichtinger, R.G.
;
Brunner-Krainz, M.
;
Alhaddad, B.
;
Wortmann, S.B.
;
Kovács-Nagy, R.
, et al.
소스
Oxidative Medicine and Cellular Longevity, Vol 2017 (2017)
Oxid. Med. Cell. Longev. 2017:7202589 (2017)
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7 . Academic Journal
Mitochondriopathien: Ein Update
저자
by
Sperl, W.
;
Prokisch, H.
;
Karall, D.
;
Mayr, J.A.
;
Freisinger, P.
.
소스
Monatsschrift Kinderheilkunde: Zeitschrift für Kinder- und Jugendmedizin
. September 2011 159(9):848-854
Full Text (Springer)
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7 .
Spectrum of combined respiratory chain defects
저자
by
Mayr, J.A.
;
Haack, T.B.
;
Freisinger, P.
;
Karall, D.
;
Makowski, C.C.
, et al.
소스
J. Inherit. Metab. Dis. 38, 629-640 (2015)
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7 .
TMEM70 deficiency: long-term outcome of 48 patients
저자
by
Magner, M.
;
Dvorakova, V.
;
Tesarova, M.
;
Mazurova, S.
;
Hansikova, H.
, et al.
소스
Journal of Inherited Metabolic Disease, 38, 583-4
Journal of Inherited Metabolic Disease, 38, 3, pp. 583-4
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7 .
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
저자
by
Koch, J.
;
Freisinger, P.
;
Feichtinger, R.G.
;
Zimmermann, F.A.
;
Rauscher, C.
, et al.
소스
Orphanet Journal of Rare Diseases
Orphanet J. Rare Dis. 10:40 (2015)
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