Research output per year
Research output per year
Search results
-
2023
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.
Feichtinger, R. (First author), Preisel, M., Brugger, K., Wortmann, S. (Last author) & Mayr, J. A. (Last author), 2023, In: GENES. 14, 6Research output: Contribution to journal › Case report › peer-review
4 Citations (Web of Science) -
2022
A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.
Feichtinger, R. (First author), Preisel, M., Steinbrücker, K. (Co-author), Brugger, K., Radda, A., Wortmann, S. (Last author) & Mayr, J. A. (Last author), 2022, In: GENES. 13, 12Research output: Contribution to journal › Case report › peer-review
2 Citations (Web of Science) -
2021
Case Report and Review of the Literature: A New and a Recurrent Variant in the
Kušíková, K., Feichtinger, R. (Co-author), Csillag, B., Kalev, O. K., Weis, S., Duba, H.-C., Mayr, J. A. (Last author) & Weis, D., 2021, In: FRONTIERS IN PEDIATRICS. 9, p. 660076Research output: Contribution to journal › Case report › peer-review
15 Citations (Web of Science) -
2019
Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.
Hirono, K., Ichida, F., Nishio, N., Ogawa-Tominaga, M., Fushimi, T., Feichtinger, R. (Co-author), Mayr, J. A. (Co-author), Kohda, M., Kishita, Y., Okazaki, Y., Ohtake, A. & Murayama, K., 2019, In: CLINICAL CASE REPORTS. 7, 3, p. 553-557Research output: Contribution to journal › Case report › peer-review
13 Citations (Web of Science) -
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases
Bugiardini, E., Pope, S., Feichtinger, R. (Co-author), Poole, O. V., Pittman, A. M., Woodward, C. E., Heales, S., Quinlivan, R., Houlden, H., Mayr, J. A. (Co-author), Hanna, M. G. & Pitceathly, R. D. S., 2019, In: Journal of Clinical Medicine. 8, 7Research output: Contribution to journal › Case report › peer-review
15 Citations (Web of Science) -
2017
Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
Ucar, S. K., Mayr, J. A. (Co-author), Feichtinger, R. (Co-author), Canda, E., Çoker, M. & Wortmann, S. (Last author), 2017, In: JIMD REPORTS. 35, p. 39-45Research output: Contribution to journal › Case report › peer-review
-
2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?
Thiels, C., Fleger, M., Huemer, M., Rodenburg, R. J., Vaz, F. M., Houtkooper, R. H., Haack, T. B., Prokisch, H., Feichtinger, R. (Co-author), Lücke, T., Mayr, J. A. (Co-author) & Wortmann, S. (Last author), 2016, In: JIMD REPORTS. 29, p. 89-93Research output: Contribution to journal › Case report › peer-review
-
MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.
Rudnicki, M., Mayr, J. A. (Co-author), Zschocke, J., Antretter, H., Regele, H., Feichtinger, R. (Co-author), Windpessl, M., Mayer, G. & Pölzl, G., 2016, In: AMERICAN JOURNAL OF KIDNEY DISEASES. 68, 6, p. 949-953Research output: Contribution to journal › Case report › peer-review
14 Citations (Web of Science) -
2014
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
Reuter, M. S., Sass, J. O., Leis, T., Köhler, J., Mayr, J. A. (Co-author), Feichtinger, R. (Co-author), Rauh, M., Schanze, I., Bähr, L., Trollmann, R., Uebe, S., Ekici, A. B. & Reis, A., 2014, In: AM J MED GENET PART A. 164A, 12, p. 3162-3169Research output: Contribution to journal › Case report › peer-review
24 Citations (Web of Science)