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Showing page 1 of results 1 - 10 of about 15 pages

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Neonatal Severe Hyperparathyroidism - Using Genetics to Determine Treatment | ESPE2019
Ziv Carmit Avnon; Rachel Beeri; Ephrat Levy-Lahad; Adi Aurbach; Floris Levy-Khademi
http://abstracts.eurospe.org/hrp/0092/hrp0092P3-296
Published: 2019-08-22

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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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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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3 hit(s)
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Neonatal Severe Hyperparathyroidism - Using Genetics to Determine Treatment | ESPE2019
Ziv Carmit Avnon; Rachel Beeri; Ephrat Levy-Lahad; Adi Aurbach; Floris Levy-Khademi
http://abstracts.eurospe.org/hrp/0092/hrp0092p3-296.html
Published: 2019-08-22

100% match
3 hit(s)
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36kb

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.html
Published: 2019-08-22

100% match
3 hit(s)
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31kb

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.html
Published: 2019-08-22

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3 hit(s)
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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.html
Published: 2019-08-22

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3 hit(s)
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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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3 hit(s)
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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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