ESPE Abstracts

ESPE Abstracts

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Showing page 1 of results 1 - 10 of about 23 pages

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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

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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

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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.html
Published: 2019-08-22

100% match
2 hit(s)
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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.html
Published: 2019-08-22

100% match
2 hit(s)
HTML
29kb

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

100% match
2 hit(s)
HTML
27kb

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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