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Mayr, Johannes
507
results:
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german (15)
english (463)
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1
Biallelic Cys141Tyr variant of SEL1L is associated with neu..:
Weis, Denisa
;
Lin, Liangguang L.
;
Wang, Huilun H.
...
Journal of Clinical Investigation. 134 (2024) 2 - p. , 2024
Link:
https://doi.org/10.1172/..
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2
Deoxyguanosine kinase deficiency: natural history and liver..:
Manzoni, Eleonora
;
Carli, Sara
;
Gaignard, Pauline
...
Brain Communications. 6 (2024) 3 - p. , 2024
Link:
https://doi.org/10.1093/..
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3
The phenotypic spectrum of PTCD3 deficiency:
Lace, Baiba
;
Faqeih, Eissa
;
Kaya, Namik
...
JIMD Reports. , 2024
Link:
https://doi.org/10.1002/..
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4
Anaplerotic Therapy Using Triheptanoin in Two Brothers Suff..:
Penkl, Maximilian
;
Mayr, Johannes A.
;
Feichtinger, René G.
...
Metabolites. 14 (2024) 4 - p. 238 , 2024
Link:
https://doi.org/10.3390/..
?
5
Response to Kulseth:
Vogel, Georg F.
;
Feichtinger, René G.
;
Mayr, Johannes A.
.
Genetics in Medicine. 26 (2024) 3 - p. 101040 , 2024
Link:
https://doi.org/10.1016/..
?
6
The Learning of Teachers: Use and Usefulness of Learning Op..:
Röhl, Sebastian
;
Cramer, Colin
;
Mayr, Johannes
Zeitschrift für Bildungsforschung. 14 (2024) 1 - p. 71-94 , 2024
Link:
https://doi.org/10.1007/..
?
7
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis..:
Smith, Claire E L
;
Laugel-Haushalter, Virginie
;
Hany, Ummey
...
Journal of Medical Genetics. 61 (2024) 7 - p. 689-698 , 2024
Link:
https://doi.org/10.1136/..
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8
Operative management of sacroiliac joint dislocation in chi..:
Wang, Yanjiang
;
DU, Xiaojie
;
Tomaszewski, Ryszard
..
Journal of Orthopaedics. 52 (2024) - p. 6-11 , 2024
Link:
https://doi.org/10.1016/..
?
9
Case Report—An Inherited Loss-of-Function NRXN3 Variant Pot..:
Feichtinger, René G.
;
Preisel, Martin
;
Brugger, Karin
..
Genes. 14 (2023) 6 - p. 1217 , 2023
Link:
https://doi.org/10.3390/..
?
10
Expanding the phenotypic and biochemical spectrum of NDUFAF..:
van der Ven, Amelie T.
;
Cabrera-Orefice, Alfredo
;
Wente, Isabell
...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107675 , 2023
Link:
https://doi.org/10.1016/..
?
11
Prognostic Value of Genotype–Phenotype Correlations in X-Li..:
Kušíková, Katarína
;
Šoltýsová, Andrea
;
Ficek, Andrej
...
Genes. 14 (2023) 12 - p. 2174 , 2023
Link:
https://doi.org/10.3390/..
?
12
Investigating the role of ASCC1 in the causation of bone fr..:
Voraberger, Barbara
;
Mayr, Johannes A.
;
Fratzl-Zelman, Nadja
...
Frontiers in Endocrinology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
13
Diametaphyseal Distal Forearm Fractures in Children: A STRO..:
Wollkopf, Andreas D. P.
;
Halbeisen, Florian S.
;
Holland-Cunz, Stefan G.
.
Children. 10 (2023) 2 - p. 374 , 2023
Link:
https://doi.org/10.3390/..
?
14
Complex I, V, and MDH2 deficient human skin fibroblasts rev..:
Meyer, Christoph
;
Hertig, Damian
;
Arnold, Janine
...
Journal of Inherited Metabolic Disease. 47 (2023) 2 - p. 270-279 , 2023
Link:
https://doi.org/10.1002/..
?
15
A case report: New-onset refractory status epilepticus in a..:
Astner-Rohracher, Alexandra
;
Mauritz, Matthias
;
Leitinger, Markus
...
Frontiers in Neurology. 13 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
1-15