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Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|December 1, 2017
Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 LocalizationJan Rehkämper, Ann-Christin Tewes, Judit Horvath, et al.
Fertility and Sterility|June 18, 2014
DMRT1 mutations are rarely associated with male infertilityAnn-Christin Tewes, Susanne Ledig, Frank Tüttelmann, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|February 11, 2019
Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An UpdateAnn-Christin Tewes, Jürgen Hucke, Thomas Römer, et al.
Fertility and Sterility|March 28, 2015
Variations in RBM8A and TBX6 are associated with disorders of the müllerian ductsAnn-Christin Tewes, Kristin Katharina Rall, Thomas Römer, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|March 13, 2018
Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndromeSusanne Ledig, Peter Wieacker
European Journal of Human Genetics : EJHG|January 10, 2013
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile malesAlbrecht Röpke, Ann-Christin Tewes, Jörg Gromoll, et al.
European Journal of Endocrinology|May 11, 2012
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual developmentSusanne Ledig, Olaf Hiort, Lutz Wünsch, et al.
American Journal of Obstetrics and Gynecology|September 11, 2007
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failureSusanne Ledig, Albrecht Röpke, Gabriele Haeusler, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|February 14, 2015
Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3)Susanne Ledig, Sabine Preisler-Adams, Susanne Morlot, et al.
Molecular Genetics & Genomic Medicine|August 13, 2018
Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patientsThomas Eggermann, Susanne Ledig, Matthias Begemann, et al.
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