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Showing page 1 of results 1 - 6 of about 6 pages

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A Mutation in the Nucleoporin-107 Gene Causes Aberrant Dpp/BMP Signaling and XX Gonadal Dysgenesis | ESPE2019
Tikva Shorê; Tgst Levi^; Rachel Kalifa; Dina Rekler; Amatzia Dreifuss; Ariella Weinberg-Shukron; Eran Lavi; Offer Gerlitz; Davi
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC10.6
Published: 2019-08-22

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A Mutation in the Nucleoporin-107 Gene Causes Aberrant Dpp/BMP Signaling and XX Gonadal Dysgenesis | ESPE2019
Tikva Shorê; Tgst Levi^; Rachel Kalifa; Dina Rekler; Amatzia Dreifuss; Ariella Weinberg-Shukron; Eran Lavi; Offer Gerlitz; Davi
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc10.6.html
Published: 2019-08-22

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The Novel R211Q POP1 Homozygous Mutation Causes Severe Short Stature But Uniquely Only Subtle Skeletal Dysplasia | ESPE2018
Maha Abdulhadi-Atwan; Tehila Klopshtock; Muna Sharaf; Ariella Weinberg-Shokrun; Ephrat Levy-Lahad; David Zangen
http://abstracts.eurospe.org/hrp/0089/hrp0089rfc2.6.htm
Published: 2018-08-28

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Severe 5 Alpha Reductase 2 Deficiency with Aphallia is Caused by p.Y91H SRD5A2 Mutation and is Responsive to Dihydrotestosterone Administration During Childhood | ESPE2016
Adi Auerbach; Shokrun Ariella Weinberg; Najwa Abdelhak; Eran Lavi; Guy Hidas; Yehezkel Landau; Ephrat Levy-Lahad; David Zangen
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p349.htm
Published: 2016-08-19

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DPP-4 Inhibitor is an Alternative Effective Treatment in a Common Cause of Anti-GAD Negative [ldquo]Type 1 Diabetes[rdquo] - A Founder CISD2 Mutation | ESPE2016
Ulla Najwa Abdulhag; Ariella Weinberg-Shukron; Maha Atwan Abdelhadi; Gil Leibovitz; Ephrat Levy-Lahad; Adi Aurbach; Eran Lavi; M
http://abstracts.eurospe.org/hrp/0086/hrp0086fc5.5.htm
Published: 2016-08-19

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Mineralo and Glucocorticoid Deficiency in Early Infancy are Caused by a Founder Novel Mutation in the Nicotinamide Nucleotide Transhydrogenase Gene | ESPE2014
Abdulsalam Abu-Libdeh; Ariella Weinberg-Shukron; Sharon Zeligson; Fouad Zhadeh; Liran Carmel; Paul Renbaum; Ephrat Levy-Lahad; D
http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d2-4.htm
Published: 2014-08-28

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