E-LIB Suche - Ergebnisse für: Steichen-Gersdorf, Elisabeth

1

Hereditäre neuroendokrine Tumoren im Kindesalter; Childhood..:

Steichen-Gersdorf, Elisabeth
Journal für Klinische Endokrinologie und Stoffwechsel. 16 (2023) 4 - p. 132-137 , 2023

Link: https://doi.org/10.1007/..

2

Frühzeitige Pubertät und rezidivierende Frakturen:

Hosa, Hanna ; Feil, Katharina ; Böttcher, Bettina...
Gynäkologische Endokrinologie. 18 (2020) 1 - p. 53-56 , 2020

Link: https://doi.org/10.1007/..

3

KidsAP: Eine künstliche Bauchspeicheldrüse für Kleinkinder ..:

KidsAP Consortium ; Fröhlich-Reiterer, Elke ; Tauschmann, Martin...
Pädiatrie & Pädologie. 55 (2020) 3 - p. 120-124 , 2020

Link: https://doi.org/10.1007/..

4

The clinical and mutational spectrum of B3GAT3 linkeropathy..:

Colman, Marlies ; Van Damme, Tim ; Steichen-Gersdorf, Elisabeth...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

5

SLC10A7 mutations cause a skeletal dysplasia with amelogene..:

Dubail, Johanne ; Huber, Céline ; Chantepie, Sandrine...
Nature Communications. 9 (2018) 1 - p. , 2018

Link: https://doi.org/10.1038/..

6

Bisphosphonates in multicentric osteolysis, nodulosis and a..:

Pichler, Karin ; Karall, Daniela ; Kotzot, Dieter...
Scientific Reports. 6 (2016) 1 - p. , 2016

Link: https://doi.org/10.1038/..

7

Homozygous SYNE1 mutation causes congenital onset of muscul..:

Baumann, Matthias ; Steichen-Gersdorf, Elisabeth ; Krabichler, Birgit...
European Journal of Human Genetics. 25 (2016) 2 - p. 262-266 , 2016

Link: https://doi.org/10.1038/..

8

A Newborn with Arterial Tortuosity Syndrome: The Importance..:

Pichler, Karin ; Ralser, Elisabeth ; Resch, Maria...
Journal of Functional Morphology and Kinesiology. 1 (2016) 2 - p. 249-253 , 2016

Link: https://doi.org/10.3390/..

9

Activity of Childhood Lupus Nephritis is Linked to Altered ..:

Edelbauer, Monika ; Kshirsagar, Sudhir ; Riedl, Magdalena...
Journal of Clinical Immunology. 32 (2012) 3 - p. 477-487 , 2012

Link: https://doi.org/10.1007/..

10

Soluble VEGF receptor 1 promotes endothelial injury in chil..:

Edelbauer, Monika ; Kshirsagar, Sudhir ; Riedl, Magdalena...
Pediatric Nephrology. 27 (2011) 5 - p. 793-800 , 2011

Link: https://doi.org/10.1007/..

11

SLC10A7 mutations cause a skeletal dysplasia with amelogene..:

Dubail, Johanne ; Huber, Céline ; Chantepie, Sandrine...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-018-05191-8. , 2018

Link: https://hal.sorbonne-uni..

12

SLC10A7 mutations cause a skeletal dysplasia with amelogene..:

Dubail, Johanne ; Huber, Céline ; Chantepie, Sandrine...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-018-05191-8. , 2018

Link: https://hal.sorbonne-uni..

13

SLC10A7 mutations cause a skeletal dysplasia with amelogene..:

Dubail, Johanne ; Huber, Céline ; Chantepie, Sandrine...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-018-05191-8. , 2018

Link: https://hal.sorbonne-uni..

14

SLC10A7 mutations cause a skeletal dysplasia with amelogene..:

Dubail, Johanne ; Huber, Celine ; Chantepie, Sandrine...
Dubail , J , Huber , C , Chantepie , S , Sonntag , S , Tuysuz , B , Mihci , E , Gordon , C T , Steichen-Gersdorf , E , Amiel , J , Nur , B , Stolte-Dijkstra , I , van Eerde , A M , van Gassen , K L , Breugem , C C , Stegmann , A , Lekszas , C , Maroofian , R , Karimiani , E G , Bruneel , A , Seta , N , Munnich , A , Papy-Garcia , D , De La Dure-Molla , M & Cormier-Daire , V 2018 , ' SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects ' , Nature Communications , vol. 9 , 3087 . https://doi.org/10.1038/s41467-018-05191-8. , 2018

Link: https://cris.maastrichtu..

15

SLC10A7 mutations cause a skeletal dysplasia with amelogene..:

Dubail, Johanne ; Huber, Céline ; Chantepie, Sandrine...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-018-05191-8. , 2018

Link: https://hal.sorbonne-uni..