Associated Papers
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.
Rajala K et al.
Prenatal Diagnosis, 2022
Studying Müllerian duct anomalies - from cataloguing phenotypes to discovering causation.
Santana González L et al.
Disease Models & Mechanisms, 2021
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.
Mikhael S et al.
Human Genetics, 2021
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat5
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
Herlin MK et al.
Orphanet Journal of Rare Diseases, 2020
Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update.
Tewes AC et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.
Tewes AC et al.
Fertility and Sterility, 2015
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.
Longoni M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.
Sandbacka M et al.
Orphanet Journal of Rare Diseases, 2013
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