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Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 313 - 320
Journal Article
Human Mutation, ISSN 1059-7794, 10/2012, Volume 33, Issue 10, pp. 1423 - 1428
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2014, Volume 51, Issue 4, pp. 224 - 228
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2015, Volume 52, Issue 6, pp. 400 - 404
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 08/2019, Volume 104, Issue 8, pp. 3049 - 3067
Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% of... 
PROTEIN | GENE | VARIANTS | MECHANISM | ENDOCRINOLOGY & METABOLISM | MUTATIONS | IDENTIFICATION | REARRANGEMENTS | FAILURE | HOP2-MND1 | INSIGHTS
Journal Article
Molecular Pathology, ISSN 0022-2593, 08/1998, Volume 51, Issue 4, p. 224
Background Epileptic encephalopathy is a broad clinical category that is highly heterogeneous genetically. Objective To describe a multiplex extended... 
Journal Article