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Monosomy - 25 Studies Found
Recruiting |
: Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome : Phelan-McDermid Syndrome : 2016-03-07 :
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Completed |
: Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards Treatment : Phelan-McDermid Syndrome : 2013-11-25 |
Completed |
: Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome) :
: 2012-02-01 :
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Active, not recruiting |
: Aneuploidies in Embryos and Spermatozoa From Patients With Y-chromosome Microdeletions : Male Sterility Due to Y-chromosome Deletions : 2015-08-11 |
Recruiting |
: Expanded Noninvasive Genomic Medical Assessment: The Enigma Study :
: Other: Blood sampling for Laboratory Developed Test (LDT) analysis Each enrolled subject, either in the |
Enrolling by invitation |
: Sulfamethoxazole for the Treatment of Primary PREPL Deficiency :
: 2015-10-07 : Drug: Sulfamethoxazole 60 mg sulfamethoxazole per kg bodyweight (maximal of 3g) divided in 2 doses per d |
Recruiting |
: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome :
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Recruiting |
: Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome :
: 2015-05-15 |
Recruiting |
: PREPL in Health and Disease :
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Active, not recruiting |
: RA-2 13-cis Retinoic Acid (Isotretinoin) :
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