Suchergebnisse - "Vodopiutz, Julia"

PubPharm (65)

1

Kinesin family member 12-related hepatopathy : A generally indolent disorder with elevated gamma-glutamyl-transferase activity

enthalten in: Clinical genetics | 2024

von Vogel, G. | Podpeskar, A. | Rieder, D. | +15

2

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

enthalten in: NPJ genomic medicine | 2024

von Stegmann, J. | Kalanithy, J. | Dworschak, G. | +69

3

CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology

enthalten in: European journal of human genetics : EJHG | 2023

von Oppermann, H. | Marcos-Grañeda, E. | Weiss, L. | +52

4

CUX1-related neurodevelopmental disorder: Deep insights into phenotype-genotype spectrum and underlying pathology

enthalten in: ResearchSquare.com | 2023

von Oppermann, H. | Marcos-Grañeda, E. | Weiss, L. | +48

5

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant

enthalten in: Genes | 2023

von Vodopiutz, J. | Steurer, L. | Haufler, F. | +5

6

Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease

enthalten in: Hepatology communications | 2022

von Panzer, M. | Viveiros, A. | Schaefer, B. | +24

7

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

enthalten in: Hepatology communications | 2022

von Panzer, M. | Viveiros, A. | Schaefer, B. | +24

8

The relation of etiology based on the 2017 ILAE classification to the effectiveness of the ketogenic diet in drug-resistant epilepsy in childhood

enthalten in: Epilepsia | 2021

von Breu, M. | Häfele, C. | Trimmel-Schwahofer, P. | +5

9

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

enthalten in: Genes | 2021

von Siegert, S. | Mindler, G. | Brücke, C. | +5

10

Rare skeletal disorders : a multidisciplinary postnatal approach to diagnosis and management

enthalten in: Wiener medizinische Wochenschrift (1946) | 2021

von Walleczek, N. | Förster, K. | Seyr, M. | +4

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