ESPE Abstracts Search

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The First Case of Genetically Diagnosed Cantu´ Syndrome in China with Mutation in ABCC9 | ESPE2019
Tian Shen; Xingxing Zhang; Donghai Liu; Haixia Chen; Xi Chen; Xinrui Tan
http://abstracts.eurospe.org/hrp/0092/hrp0092P2-191
Published: 2019-08-22

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A Recurrent 6-bp Intronic Deletion in NESP55 with Reduced Penetrance in Pseudohypoparathyroidism Type 1b | ESPE2018
Dong Li; Hakon Hakonarson; Michael Levine
http://abstracts.eurospe.org/hrp/0089/hrp0089fc11.5.htm
Published: 2018-08-28

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Whole Genome Sequencing Reveals Novel Intragenic Deletions of GNAS as Causes of Pseudohypoparathyroidism Type 1a | ESPE2018
Dong Li; Caleb Bupp; Hakon Hakonarson; Michael Levine
http://abstracts.eurospe.org/hrp/0089/hrp0089fc2.2.htm
Published: 2018-08-28

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Whole Exome Sequencing Identifies EPHB4 and PIk3R6 as Causes of Generalized Lymphatic Anomaly | ESPE2016
Dong Li; Tara Wenger; Christoph Seiler; Michael March; Lifeng Tian; Charlly Kao; Rahul Pandey; Kenny Nguyen; Rosetta Chiavacci;
http://abstracts.eurospe.org/hrp/0086/hrp0086fc6.2.htm
Published: 2016-08-19

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Hyperinsulinism Secondary to Congenital Portosystemic Shunt in a Neonate | ESPE2015
Yong Hee Hong; Dong Hoon Lee; Sung Shin Kim
http://abstracts.eurospe.org/hrp/0084/hrp0084p3-1076.htm
Published: 2015-08-26

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Gonadal and Sexual Dysfunction in Childhood Cancer Survivors | ESPE2015
Ju Young Yoon; Hyeon Jin Park; Jin Soo Chung; Sang Hyun Hwang; Dong Ock Lee; Hye Young Shim; Byung Kiu Park
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-436.htm
Published: 2015-08-26

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Identification of Mutations in TBX1 and AIRE in Isolated Hypoparathyroidism Patients | ESPE2015
Dong Li; Sarah Schnellbacher; Lifeng Tian; Cuiping Hou; Cecilia Kim; Hakon Hakonarson; Michael Levine
http://abstracts.eurospe.org/hrp/0084/hrp0084fc2.2.htm
Published: 2015-08-26

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Whole Exome Sequencing Analysis of Patients with Autosomal Recessive Hypophophatemic Rickets Identified Mutations in DMP1, ENPP1 and SLC34A3 | ESPE2015
Dong Li; Yardena Tenenbaum-Rakover; Lifeng Tian; Cuiping Hou; Cecilia Kim; Hakon Hakonarson; Michael Levine
http://abstracts.eurospe.org/hrp/0084/hrp0084fc2.1.htm
Published: 2015-08-26

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