Header Logo
Keywords
Last Name
Institution
Announcement

You can now add alternative names! Click here to add other names that you've published under.
Back to Search Results

Connection

Search Results to Yuri Zarate

This is a "connection" page, showing the details of why an item matched the keywords from your search.

                     
                     

One or more keywords matched the following items that are connected to Zarate, Yuri

Item TypeName
Academic Article Fabry's disease.
Academic Article A case of minimal change disease in a Fabry patient.
Academic Article Genetic causes of macroglossia: diagnostic approach.
Academic Article Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
Concept Fabry Disease
Concept Acute Disease
Concept Brain Diseases
Concept Aortic Diseases
Concept Bone Diseases, Metabolic
Concept Cardiovascular Diseases
Concept Infant, Newborn, Diseases
Concept Mouth Diseases
Concept Liver Diseases
Concept Diseases in Twins
Concept Genetic Diseases, Inborn
Concept Genetic Diseases, X-Linked
Concept Nervous System Diseases
Concept Skin Diseases, Genetic
Concept Genetic Predisposition to Disease
Concept Disease Models, Animal
Concept Mitochondrial Diseases
Concept Kidney Diseases, Cystic
Concept Heart Valve Diseases
Academic Article Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
Academic Article Aortic dilation in pediatric patients.
Academic Article Aortic dilation, genetic testing, and associated diagnoses.
Academic Article Lessons from a pair of siblings with BPAN.
Academic Article Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
Academic Article Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.
Academic Article Arterial tortuosity syndrome: 40 new families and literature review.
Academic Article Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Academic Article SATB2-associated syndrome (SAS) and associated dental findings.
Academic Article Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
Academic Article Mutation update for the SATB2 gene.
Academic Article Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.
Grant RFA-DD-18-001 Birth Defects Study To Evaluate Pregnancy exposures (BD-STEPS) II Core & Component B Steps -Stillbirth
Academic Article Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Academic Article NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Academic Article De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Academic Article A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Academic Article Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Academic Article SATB2-associated syndrome in adolescents and adults.
Academic Article Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases.
Academic Article Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Academic Article A clinical scoring system for early onset (neonatal) Marfan syndrome.
Academic Article Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Academic Article Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance.

Search Criteria
  • Disease