Showing results (1-10 of 10) with videos related to
Sort By:
Pageof 1
Clinical Genetics|January 10, 2019
Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasiaSigrun Wohlfart, Holm SchneiderJournal of Human Genetics|June 17, 2016
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangementsSigrun Wohlfart, Johanna Hammersen, Holm SchneiderEuropean Journal of Pediatrics|August 9, 2018
Sweating ability of patients with p63-associated syndromesPaul Ferstl, Sigrun Wohlfart, Holm SchneiderAmerican Journal of Medical Genetics. Part A|October 7, 2015
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasiaSigrun Wohlfart, Stephan Söder, Asma Smahi, et al.American Journal of Medical Genetics. Part A|April 10, 2014
Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasiaKristin Burger, Anne-Theres Schneider, Sigrun Wohlfart, et al.Orphanet Journal of Rare Diseases|January 12, 2020
Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up studySigrun Wohlfart, Ralph Meiller, Johanna Hammersen, et al.American Journal of Medical Genetics. Part A|July 11, 2017
Automatic recognition of the XLHED phenotype from facial imagesSmail Hadj-Rabia, Holm Schneider, Elena Navarro, et al.Prenatal Diagnosis|November 6, 2018
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonographyJohanna Hammersen, Sigrun Wohlfart, Tamme W Goecke, et al.The New England Journal of Medicine|April 26, 2018
Prenatal Correction of X-Linked Hypohidrotic Ectodermal DysplasiaHolm Schneider, Florian Faschingbauer, Sonia Schuepbach-Mallepell, et al.European Journal of Human Genetics : EJHG|June 2, 2011
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneityR Abou Jamra, Sigrun Wohlfart, Markus Zweier, et al.Pageof 1