Associated Papers
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.
Rajala K et al.
Prenatal Diagnosis, 2022
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
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
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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