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

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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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Genome-Wide Meta-Analysis Identifies a Novel Low Frequency STK39 Variant of Large Effect on Risk of Type 1 Diabetes | ESPE2018
Vincenzo Forgetta; Despoina Manousaki; Stephanie Ross; Marie-Catherine Tessier; Luc Marchand; Hui-Qi Qu; Jonathan P Bradfield; S
http://abstracts.eurospe.org/hrp/0089/hrp0089fc3.2.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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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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