E-LIB Suche - Ergebnisse für: Schatz, Ulrich A.

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Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, Rauan ; Rad, Aboulfazl ; Lin, Sheng-Jia...
Brain. 147 (2023) 4 - p. 1436-1456 , 2023

Link: https://doi.org/10.1093/..

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Correction: Requirement of the acyl-CoA carrier ACBD6 in my..:

Soupene, Eric ; Schatz, Ulrich A. ; Rudnik-Schöneborn, Sabine.
PLOS ONE. 17 (2022) 4 - p. e0267678 , 2022

Link: https://doi.org/10.1371/..

3

Bi-allelic loss-of-function variants in BCAS3 cause a syndr..:

Hengel, Holger ; Hannan, Shabab B. ; Dyack, Sarah...
The American Journal of Human Genetics. 108 (2021) 6 - p. 1069-1082 , 2021

Link: https://doi.org/10.1016/..

4

Impaired glucose-1,6-biphosphate production due to bi-allel..:

Morava, Eva ; Schatz, Ulrich A. ; Torring, Pernille M....
The American Journal of Human Genetics. 108 (2021) 6 - p. 1151-1160 , 2021

Link: https://doi.org/10.1016/..

5

A Syrian patient with Steel syndrome due to compound hetero..:

Pölsler, Laura ; Schatz, Ulrich A. ; Simma, Burkhard..
American Journal of Medical Genetics Part A. 182 (2020) 4 - p. 730-734 , 2020

Link: https://doi.org/10.1002/..

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Requirement of the acyl-CoA carrier ACBD6 in myristoylation..:

Soupene, Eric ; Schatz, Ulrich A. ; Rudnik-Schöneborn, Sabine..
PLOS ONE. 15 (2020) 2 - p. e0229718 , 2020

Link: https://doi.org/10.1371/..

7

Spektrum der Ichthyosen in einer österreichischen Ichthyose..:

Seidl‐Philipp, Magdalena ; Schatz, Ulrich A. ; Gasslitter, Irina...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 18 (2020) 1 - p. 17-26 , 2020

Link: https://doi.org/10.1111/..

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A further case of familial ring chromosome 20 mosaicism - m..:

Unterberger, Iris ; Dobesberger, Judith ; Schober, Harald...
European Journal of Medical Genetics. 62 (2019) 11 - p. 103564 , 2019

Link: https://doi.org/10.1016/..

9

Isoform-specific domain organization determines conformatio..:

Guder, Philipp ; Lotz-Havla, Amelie S. ; Woidy, Mathias...
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1866 (2019) 3 - p. 518-531 , 2019

Link: https://doi.org/10.1016/..

10

Spectrum of ichthyoses in an Austrian ichthyosis cohort fro..:

Seidl‐Philipp, Magdalena ; Schatz, Ulrich A. ; Gasslitter, Irina...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 18 (2019) 1 - p. 17-25 , 2019

Link: https://doi.org/10.1111/..

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