E-LIB Suche - Ergebnisse für: Wohlfart, Sigrun

1

Natural history of X-linked hypohidrotic ectodermal dysplas..:

Wohlfart, Sigrun ; Meiller, Ralph ; Hammersen, Johanna...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

2

Variants of the ectodysplasin A1 receptor gene underlying h..:

Wohlfart, Sigrun ; Schneider, Holm
Clinical Genetics. 95 (2019) 3 - p. 427-432 , 2019

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

3

Reliability of prenatal detection of X‐linked hypohidrotic ..:

Hammersen, Johanna ; Wohlfart, Sigrun ; Goecke, Tamme W....
Prenatal Diagnosis. 39 (2018) 9 - p. 796-805 , 2018

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

4

Sweating ability of patients with p63-associated syndromes:

Ferstl, Paul ; Wohlfart, Sigrun ; Schneider, Holm
European Journal of Pediatrics. 177 (2018) 11 - p. 1727-1731 , 2018

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

5

Automatic recognition of the XLHED phenotype from facial im..:

Hadj‐Rabia, Smail ; Schneider, Holm ; Navarro, Elena...
American Journal of Medical Genetics Part A. 173 (2017) 9 - p. 2408-2414 , 2017

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

6

Mutational spectrum in 101 patients with hypohidrotic ectod..:

Wohlfart, Sigrun ; Hammersen, Johanna ; Schneider, Holm
Journal of Human Genetics. 61 (2016) 10 - p. 891-897 , 2016

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

7

A novel missense mutation in the gene EDARADD associated wi..:

Wohlfart, Sigrun ; Söder, Stephan ; Smahi, Asma.
American Journal of Medical Genetics Part A. 170 (2015) 1 - p. 249-253 , 2015

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

8

Genotype–phenotype correlation in boys with X‐linked hypohi..:

Burger, Kristin ; Schneider, Anne‐Theres ; Wohlfart, Sigrun...
American Journal of Medical Genetics Part A. 164 (2014) 10 - p. 2424-2432 , 2014

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

9

Natural history of X-linked hypohidrotic ectodermal dysplas..:

Wohlfart, Sigrun ; Meiller, Ralph ; Hammersen, Johanna...
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/14412. , 2020

Link: https://opus4.kobv.de/op..

10

Aberrant splicing as potential modifier of the phenotype of..:

Mittwollen, Ramona ; Wohlfart, Sigrun ; Park, Jung...
https://freidok.uni-freiburg.de/data/169515. , 2020

Link: https://freidok.uni-frei..

11

Residual sweating ability of children with hypohidrotic ect..:

Wohlfart, Sigrun
https://openresearchlibrary.org/viewer/6db79098-5943-47fc-876d-7683a2edfde3. , 2017

Link: https://openresearchlibr..

12

Homozygosity mapping in 64 Syrian consanguineous families w..:

Abou Jamra, R ; Wohlfart, Sigrun ; Zweier, Markus...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198153. , 2011

Link: http://www.ncbi.nlm.nih...

13

Homozygosity mapping in 64 Syrian consanguineous families w..:

Abou Jamra, Rami ; Wohlfart, Sigrun ; Zweier, Markus...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2011.98. , 2011

Link: https://hal.science/hal-..

14

Protocol for the Phase 2 EDELIFE Trial Investigating the Ef..:

Schneider, Holm ; Hadj-Rabia, Smail ; Faschingbauer, Florian...
Genes. 14 (2023) 1 - p. 153 , 2023

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

15

Functional and clinical analysis of five EDA variants assoc..:

Gökdere, Sare ; Schneider, Holm ; Hehr, Ute...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..