Suchergebnisse - "Vodopiutz, Julia"

PubPharm (11)

1

CSGALNACT1-congenital disorder of glycosylation : A mild skeletal dysplasia with advanced bone age

enthalten in: Human mutation | 2020

von Mizumoto, S. | Janecke, A. | Sadeghpour, A. | +11

2

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity

enthalten in: Human mutation | 2017

von Vodopiutz, J. | Mizumoto, S. | Lausch, E. | +14

3

Chondroitin Sulfate N -acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity

enthalten in: Human mutation | 2017

von Vodopiutz, J. | Mizumoto, S. | Lausch, E. | +14

4

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

enthalten in: Human mutation | 2015

von Vodopiutz, J. | Seidl, R. | Prayer, D. | +20

5

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics

enthalten in: Human mutation | 2015

von Braunholz, D. | Obieglo, C. | Parenti, I. | +10

ErratumIn: Hum Mutat. 2015 Feb;36(2):279-80

6

WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease

in: Human mutation | 2015

von Vodopiutz, J. | Seidl, R. | Prayer, D. | +20

7

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

enthalten in: Human mutation | 2015

von Vodopiutz, J. | Seidl, R. | Prayer, D. | +20

8

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

enthalten in: Human mutation | 2015

von Braunholz, D. | Obieglo, C. | Parenti, I. | +10

9

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

enthalten in: Human mutation | 2015

von Braunholz, D. | Obieglo, C. | Parenti, I. | +10

10

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants : a genotype-phenotype study

enthalten in: Human mutation | 2010

von Steenweg, M. | Jakobs, C. | Errami, A. | +48