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Limbal Stem Cell Deficiency of Genetic Origin: Genotype-phenotype Correlation
Condition(s):Limbus CorneaeLast Updated:December 14, 2020Recruiting
Genotype Phenotype Correlation: 131 Clinical Trials, Page 1 of 14
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Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation
Condition(s):Osteogenesis Imperfecta; Short StatureLast Updated:June 5, 2020Recruiting
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Dystonia Genotype-Phenotype Correlation
Condition(s):Dystonia; Dystonia; Idiopathic; Dystonia, Primary; Dystonia, Secondary; Dystonia, Familial; Dystonia Disorder; Dystonias, Sporadic; Dystonia; Orofacial; Dystonia Lenticularis; Dystonia, Paroxysmal; Dystonia 6; Dystonia 5; Dystonia 8; Dystonia 9; Dystonia 19; Dystonia 10; Dystonia 11; Dystonia 20; Dystonia 12; Dystonia, Focal; Dystonia of Head; Dystonia, DiurnalLast Updated:May 19, 2020Recruiting
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Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and Adenosine Triphosphate Activities in Red Blood Cells of People With Sickle Cell Disease
Condition(s):Sickle Cell; PKLR Variants; Adenosine Triphosphate ActivitiesLast Updated:December 3, 2020Recruiting
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Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
Condition(s):Batten Disease; Late Infantile Neuronal Ceroid LipofuscinosisLast Updated:July 29, 2020Completed
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Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD
Condition(s):Muscular Dystrophy, DuchenneLast Updated:May 10, 2019Recruiting
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Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
Condition(s):Erythropoietic Protoporphyria; EPP; X-Linked Protoporphyria; XLP; XLPP; X-Linked Dominant Erythropoietic Protoporphyria; XLEPP; XLDPLast Updated:April 17, 2020Completed
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Study of the Involvement of 15q11 – q13 Chromosome Region and CYFIP1 Gene in Autism. Attempt a Genotype-phenotype Correlation
Condition(s):Autistic DisorderLast Updated:August 11, 2016Completed
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Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.
Condition(s):Leber Congenital AmaurosisLast Updated:November 21, 2016Completed
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Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients
Condition(s):Vestibular Diseases; DFNA9Last Updated:April 1, 2020Recruiting