Scientific Programme, ePosters & Abstracts
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Genetic Testing of DSD Patients in Ukraine | ESPE2019 Yuliya Shcherbak; Nataliya Zelinska; Iryna Schevchenko; Evgeniya Globa; Anu Bashamboo; Kenneth McElreavey http://abstracts.eurospe.org/hrp/0092/hrp0092P2-272 Published: 2019-08-22
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The Evolving Role of Whole Exome Sequencing in the Diagnosis of Disorders of Sex Development (DSD) | ESPE2019 Yardena Tenenbaum-Rakover; Osnat Admoni; Ghadir Elias-Assad; Shira London; Barhoum Marie Noufi-; Hana Ludar; Tal Almagor; Rita B http://abstracts.eurospe.org/hrp/0092/hrp0092P2-244 Published: 2019-08-22
Mutations in CBX2 Associated with Gonadal Anomalies in 46,XY and 46,XX Individuals | ESPE2019 Tiphanie Merel; Caroline Eozenou; Maldergem Lionel Van; Evgenia Globa; Ken McElreavey; Anu Bashamboo http://abstracts.eurospe.org/hrp/0092/hrp0092P1-127 Published: 2019-08-22
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Development of Testicular Organoids to Understand Disorders of Sex Development | ESPE2019 Caroline Eozenou; Ken McElreavey; Anu Bashamboo http://abstracts.eurospe.org/hrp/0092/hrp0092HA1 Published: 2019-08-22
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Loss-Of-Function and Missense Mutations in MYRF are a Novel Cause of Autosomal Dominant 46,XY Leydig Cell Hypoplasia and 46,XY Gonadal Dysgenesis | ESPE2019 Ken McElreavey; Evgenia Globa; Rita Bertalan; Joelle Bignon-Topalovic; Raja Brauner; Anu Bashamboo http://abstracts.eurospe.org/hrp/0092/hrp0092FC10.4 Published: 2019-08-22
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Mutations in the DEAH-box RNA Helicase DHX37 are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome | ESPE2019 Ken McElreavey; Anne Jorgensen; Caroline Eozenou; Tiphanie Merel; Joelle Bignon-Topalovic; Daisy Tan; Denis Houzelstein; Federic http://abstracts.eurospe.org/hrp/0092/hrp0092FC10.3 Published: 2019-08-22
Genetic Testing of DSD Patients in Ukraine | ESPE2019 Yuliya Shcherbak; Nataliya Zelinska; Iryna Schevchenko; Evgeniya Globa; Anu Bashamboo; Kenneth McElreavey http://abstracts.eurospe.org/hrp/0092/hrp0092p2-272.html Published: 2019-08-22
The Evolving Role of Whole Exome Sequencing in the Diagnosis of Disorders of Sex Development (DSD) | ESPE2019 Yardena Tenenbaum-Rakover; Osnat Admoni; Ghadir Elias-Assad; Shira London; Barhoum Marie Noufi-; Hana Ludar; Tal Almagor; Rita B http://abstracts.eurospe.org/hrp/0092/hrp0092p2-244.html Published: 2019-08-22
Mutations in CBX2 Associated with Gonadal Anomalies in 46,XY and 46,XX Individuals | ESPE2019 Tiphanie Merel; Caroline Eozenou; Maldergem Lionel Van; Evgenia Globa; Ken McElreavey; Anu Bashamboo http://abstracts.eurospe.org/hrp/0092/hrp0092p1-127.html Published: 2019-08-22
Development of Testicular Organoids to Understand Disorders of Sex Development | ESPE2019 Caroline Eozenou; Ken McElreavey; Anu Bashamboo http://abstracts.eurospe.org/hrp/0092/hrp0092ha1.html Published: 2019-08-22
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