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Results for “Chromosomal Abnormality”

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Showing 20 of 0 results

Not applicableStudy completedNCT05014997
What this trial is testing

TyG Index Levels in Klinefelter Syndrome

Who this might be right for
Cardiac EventKlinefelter SyndromeEndothelial Dysfunction
Gulhane School of Medicine 60
Not applicableLooking for participantsNCT06274164
What this trial is testing

Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders

Who this might be right for
RAI1 Gene 17P11.2 Deletion+Duplication
Baylor College of Medicine 90
Not applicableStudy completedNCT03860064
What this trial is testing

Aneuploidy Rates of in Vitro Matured Oocytes

Who this might be right for
Aneuploidy
IVI Barcelona 60
Large-scale testing (Phase 3)Looking for participantsNCT06914609
What this trial is testing

REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome

Who this might be right for
Angelman Syndrome
Ionis Pharmaceuticals, Inc. 158
Large-scale testing (Phase 3)Ended earlyNCT00754052
What this trial is testing

Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 11 To 17

Who this might be right for
Down SyndromeCognitive Dysfunction
Eisai Inc. 8
Testing effectiveness (Phase 2)Study completedNCT03722290
What this trial is testing

Metformin in Children and Adults With Fragile X Syndrome

Who this might be right for
Fragile X Syndrome
Université de Sherbrooke 15
Not applicableStudy completedNCT00544531
What this trial is testing

The Cytogenetic Constitution of Embryos Resulting From Immature Oocytes (M1)

Who this might be right for
Infertility
Assaf-Harofeh Medical Center 23,907
Testing effectiveness (Phase 2)Ended earlyNCT01013480
What this trial is testing

An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome

Who this might be right for
Fragile X Syndrome
Seaside Therapeutics, Inc. 45
Post-approval studies (Phase 4)Looking for participantsNCT06544473
What this trial is testing

Determining Dose Equivalence Between Oral and Transdermal Estrogen Treatment in Women With Turner Syndrome

Who this might be right for
Turner SyndromeHypogonadism; OvarianHormone Replacement Therapy+2 more
Aarhus University Hospital 50
Not applicableNot Yet RecruitingNCT07509879
What this trial is testing

Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder

Who this might be right for
Williams SyndromeAutism Disorder
Qilu Hospital of Shandong University 75
Not applicableUnknownNCT04754178
What this trial is testing

Assessment of Skills and Behaviors in Children With Down Syndrome

Who this might be right for
Down Syndrome
Universidad de Granada 60
Testing effectiveness (Phase 2)Study completedNCT00001221
What this trial is testing

Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome

Who this might be right for
Gonadal DysgenesisTurner's Syndrome
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 160
Not applicableStudy completedNCT03718416
What this trial is testing

Natural History Study of Serious Medical Events in PWS

Who this might be right for
Prader-Willi Syndrome
Foundation for Prader-Willi Research 700
Not applicableStudy completedNCT02541058
What this trial is testing

Non-Invasive Chromosomal Evaluation of 22q11.2

Who this might be right for
22q.11.2 Deletion/Duplication
Cindy Cisneros 420
Large-scale testing (Phase 3)Study completedNCT01563926
What this trial is testing

Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency

Who this might be right for
Growth Hormone DisorderGrowth Hormone Deficiency in ChildrenGenetic Disorder+1 more
Novo Nordisk A/S 168
Not applicableStudy completedNCT02127515
What this trial is testing

Non Invasive Prenatal Testing of Down Syndrome

Who this might be right for
Down Syndrome
Assistance Publique - Hôpitaux de Paris 2,111
Not applicableEnrolling By InvitationNCT06614582
What this trial is testing

Long-term Evaluation of Nasopharyngeal Airway in Hypotonia

Who this might be right for
Hypotonia, MuscleObstructive Sleep ApneaNasal Airway Obstruction
University of Michigan 40
Not applicableStudy completedNCT04526379
What this trial is testing

Study of Emotion and Cognition Abilities of Children With PWS and Proposition of an Innovative Remediation

Who this might be right for
Prader-Willi Syndrome
University Hospital, Toulouse 50
Not applicableLooking for participantsNCT06560242
What this trial is testing

Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant

Who this might be right for
Fragile X Syndrome
Children's Hospital Medical Center, Cincinnati 30
Large-scale testing (Phase 3)Ended earlyNCT06860373
What this trial is testing

LIFE-DSR-Biomarker Sub-study of Biomarkers in Down Syndrome Related Alzheimer's Disease (DS-AD)

Who this might be right for
Down Syndrome
LuMind IDSC Foundation 5
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