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Showing page 1 of results 1 - 10 of about 145 matches for "huebner-a"

100% match
22 hit(s)
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High Frequency of Hypomorphic Allelic Haplotypes of the gh1 Proximal Promoter in Patients with Proportional Undergrowth and Isolated GH Deficiency
Angel Campos-Barros; Ana Gomez-Nunez; Olga Zurita-Munoz; Elena Gallego-Gomez; Jaime Cruz-Rojo; Lucia Garzon; Cristina Luzuriaga-
http://abstracts.eurospe.org/hrp/0084/hrp0084p1-97.htm
Published: 2015-08-26

92% match
12 hit(s)
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Heterozygous Hypomorphic Mutation in the INS Gene could Cause Transient Neonatal Diabetes in Extremely Low Birth Weight Neonates
Tohru Yorifuji; Azumi Sakakibara; Yukiko Hashimoto; Rie Kawakita; Yukiko Hosokawa; Rika Fujimaru
http://abstracts.eurospe.org/hrp/0084/hrp0084fc10.6.htm
Published: 2015-08-26

86% match
12 hit(s)
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A hypomorphic H6PD allele is sufficient to rescue the skeletal myopathy but not the lack of 11β-HSD type 1-mediated glucocorticoid regeneration phenotypes of H6PDKO mice
Agnieszka Zielinska; Craig Doig; Emma McCabe; Paul Stewart; Gareth Lavery
http://www.endocrine-abstracts.org/ea/0028/ea0028oc4.3.htm
Published: 2012-03-01

75% match
10 hit(s)
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Deleting genomic region of Hsd17b1 in mice results into a hypomorphic Naglu allele, and consequently to a phenotype mimicking a lysosomal storage disease
Heli Jokela; Janne Hakkarainen; Pirjo Pakarinen; Suvi Ruohonen; Fuping Zhang; Matti Poutanen
http://www.endocrine-abstracts.org/ea/0049/ea0049ep364.htm
Published: 2017-05-03

63% match
6 hit(s)
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ba0005p59_eposter.pdf

http://www.bone-abstracts.org/ba/0005/eposters/ba0005p59_eposter.pdf
Published:

54% match
24 hit(s)
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Genetic Heterogeneity in Triple A Syndrome: Discrimination of the Classic Syndrome from Two Triple A-Like Syndromes
Angela Huebner; Felix Reschke; Ingo Kurth; Susann Kutzner; Eda Utine; Filiz Hazan; Dana Landgraf; Christian A Hubner; Katrin Koe
http://abstracts.eurospe.org/hrp/0084/hrp0084p1-5.htm
Published: 2015-08-26

51% match
2 hit(s)
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Slide 1

http://www.endocrine-abstracts.org/ea/0036/eposters/ea0036p12_eposter.pdf
Published:

44% match
4 hit(s)
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244kb

10.3252/pso.eu.55ESPE.2016

http://abstracts.eurospe.org//hrp/0086/eposters/hrp0086p1-p620_eposter.pdf
Published:

44% match
4 hit(s)
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244kb

10.3252/pso.eu.55ESPE.2016

http://abstracts.eurospe.org/hrp/0086/eposters/hrp0086p1-p620_eposter.pdf
Published:

44% match
4 hit(s)
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10.3252/pso.eu.55ESPE.2016

http://abstracts.eurospe.org//hrp/0086/eposters/hrp0086rfc6.4_eposter.pdf
Published:

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