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Search Results to Yuri Zarate

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

Item TypeName
Academic Article Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
Concept Microtubule-Associated Proteins
Concept Carrier Proteins
Concept DNA-Binding Proteins
Concept Chromosomal Proteins, Non-Histone
Concept Microfilament Proteins
Concept Drosophila Proteins
Concept Argonaute Proteins
Concept Adaptor Proteins, Signal Transducing
Concept Glucose Transport Proteins, Facilitative
Concept Caenorhabditis elegans Proteins
Concept Nerve Tissue Proteins
Concept Tumor Suppressor Proteins
Concept Matrix Attachment Region Binding Proteins
Concept Hedgehog Proteins
Concept Proto-Oncogene Proteins c-akt
Concept Nuclear Proteins
Academic Article Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Academic Article Lessons from a pair of siblings with BPAN.
Academic Article SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
Academic Article First clinical report of an infant with microcephaly and CASC5 mutations.
Academic Article An infant with ash-leaf and caf? au lait spots: a case of double phakomatosis.
Academic Article SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
Academic Article Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.
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 Dental radiographic findings in 18 individuals with SATB2-associated syndrome.
Academic Article SATB2-associated syndrome (SAS) and associated dental findings.
Academic Article Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
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 Satb2 regulates proliferation and nuclear integrity of pre-osteoblasts.
Academic Article Behavioral phenotype and sleep problems in SATB2-associated syndrome.
Academic Article MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
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 Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Academic Article Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.
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 Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Academic Article De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Academic Article Growth in individuals with SATB2-associated syndrome.
Academic Article Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
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.

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