ESPE Abstracts Search

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Showing page 1 of results 1 - 10 of about 19 pages

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NKX2-2 Human Mutation Causes Neonatal Diabetes followed by Severe Infantile Obesity Associated with Paradoxical Upregulated Ghrelin Levels - Do Beta-cells Secrete Ghrelin? | ESPE2018
Adi Auerbach; Amitay Cohen; Eran Lavi; Najwa Abdulhaq; Ariella Weinberg Shokrun; Ephrat Levy-Lahad; Rina Hemi; Zangen David
http://abstracts.eurospe.org/hrp/0089/hrp0089p3-p125.htm
Published: 2018-08-28

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The Novel Founder Homozygous V225M Mutation in the 17HSDB3 Gene Causes Aberrant Splicing and Severe XY-DSD | ESPE2019
Floris Levy-Khademi; Sharon Zeligson; Tehila Klopstock; Boris Chertin; Carmit Avnon-Ziv; Paul Renbaum; Eran Lavi; Muna Sharaf; S
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-128
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
Published: 2019-08-22

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The Founder Homozygous NR5A1 Gene Mutation p.R103Q Causes Asplenia and Severe XY-DSD and XX-DSD in a Palestinian Cohort | ESPE2019
Maha Abdulhadi-Atwan; Guy Hidesh; Abdulsalam Abulibdeh; Harry Hirsch; Tehila Klopstock; Ephrat Levy-Lahad; David Zangen
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC3.3
Published: 2019-08-22

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A Novel Genetic Aetiology for Familial Neonatal Central Diabetes Insipidus | ESPE2019
Eran lavi; Muna Sharaf; Abdulsalam Abu-Libdeh; Pinchas Renbaum; Ephrat Levy-Lahad; David Zangen
http://abstracts.eurospe.org/hrp/0092/hrp0092FC11.3
Published: 2019-08-22

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The N309K Pro-Protein Convertase Type 1 (PCSK1) Gene Mutation Causes Lack of Spontaneous Puberty and Primary Amenorrhea | ESPE2018
Ulla Najwa Abdulhag; Mona Sharaf; Abdulsalam Abu Libdeh; David Zangen
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p299.htm
Published: 2018-08-28

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