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Vodopiutz, J
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1

Whole exome sequencing is an efficient, sensitive and speci..:

McInerney-Leo, A.M. ; Harris, J.E. ; Leo, P.J....
Clinical Genetics.  88 (2015)  6 - p. 550-557 , 2015
Link: https://doi.org/10.1111/..
 
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2

Congenital disorders of glycosylation—a challenging group o..:

Vodopiutz, J. ; Bodamer, O. A.
Journal of Inherited Metabolic Disease.  31 (2008)  2 - p. 267-269 , 2008
Link: https://doi.org/10.1007/..
 
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3

Severe Speech Delay as the Presenting Symptom of Guanidinoa..:

Vodopiutz, J. ; Item, C.B. ; Häusler, M...
Journal of Child Neurology.  22 (2007)  6 - p. 773-774 , 2007
Link: https://doi.org/10.1177/..
 
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4

Kinesin family member 12‐related hepatopathy: A generally i..:

Vogel, Georg‐Friedrich ; Podpeskar, Alexandra ; Rieder, Dietmar...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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5

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous S..:

Vodopiutz, Julia ; Steurer, Lisa-Maria ; Haufler, Florentina...
Genes.  14 (2023)  4 - p. 877 , 2023
Link: https://doi.org/10.3390/..
 
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6

Synonymous mutation in adenosine triphosphatase copper‐tran..:

Panzer, Marlene ; Viveiros, André ; Schaefer, Benedikt...
Hepatology Communications.  6 (2022)  7 - p. 1611-1619 , 2022
Link: https://doi.org/10.1002/..
 
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7

Rare skeletal disorders: a multidisciplinary postnatal appr..:

Walleczek, Nina-Katharina ; Förster, Kristina ; Seyr, Martina...
Wiener Medizinische Wochenschrift.  171 (2021)  5-6 - p. 94-101 , 2021
Link: https://doi.org/10.1007/..
 
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8

Expanding the Phenotype of the FAM149B1-Related Ciliopathy ..:

Siegert, Sandy ; Mindler, Gabriel T. ; Brücke, Christof...
Genes.  12 (2021)  11 - p. 1648 , 2021
Link: https://doi.org/10.3390/..
 
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9

The relation of etiology based on the 2017 ILAE classificat..:

Breu, Markus ; Häfele, Chiara ; Trimmel‐Schwahofer, Petra...
Epilepsia.  62 (2021)  11 - p. 2814-2825 , 2021
Link: https://doi.org/10.1111/..
 
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10

Novel PCNT variants in MOPDII with attenuated growth restri..:

Waich, Stephanie ; Janecke, Andreas R. ; Parson, Walther...
Clinical Genetics.  98 (2020)  3 - p. 282-287 , 2020
Link: https://doi.org/10.1111/..
 
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11

Ein ungewöhnlicher Verlauf von Incontinentia pigmenti:

Sigl, Jannina ; Vodopiutz, Julia ; Tanew, Adrian.
JDDG: Journal der Deutschen Dermatologischen Gesellschaft.  18 (2020)  2 - p. 133-135 , 2020
Link: https://doi.org/10.1111/..
 
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12

Severe Deoxyguanosine Kinase Deficiency in Austria: A 6‐Pat..:

Waich, Stephanie ; Roscher, Anne ; Brunner‐Krainz, Michaela...
Journal of Pediatric Gastroenterology and Nutrition.  68 (2019)  1 - p. , 2019
Link: https://doi.org/10.1097/..
 
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13

CSGALNACT1‐congenital disorder of glycosylation: A mild ske..:

Mizumoto, Shuji ; Janecke, Andreas R. ; Sadeghpour, Azita...
Human Mutation.  41 (2019)  3 - p. 655-667 , 2019
Link: https://doi.org/10.1002/..
 
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14

An unusual presentation of incontinentia pigmenti:

Sigl, Jannina ; Vodopiutz, Julia ; Tanew, Adrian.
JDDG: Journal der Deutschen Dermatologischen Gesellschaft.  18 (2019)  2 - p. 133-135 , 2019
Link: https://doi.org/10.1111/..
 
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15

MUW researcher of the month:

Vodopiutz, Julia
Wiener klinische Wochenschrift.  130 (2018)  5-6 - p. 222-223 , 2018
Link: https://doi.org/10.1007/..
 
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