Connection

Announcement

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

Search Results to Yuri Zarate

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

Search Results

Zarate, Yuri

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

Item Type	Name
Academic Article	Lethal presentation of neurofibromatosis and Noonan syndrome.
Academic Article	Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
Concept	Germ-Line Mutation
Concept	Frameshift Mutation
Concept	Mutation
Concept	Mutation, Missense
Academic Article	Unique Cerebrovascular Anomalies in Noonan Syndrome With RAF1 Mutation
Academic Article	Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
Academic Article	Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Academic Article	Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
Academic Article	Aortic dilation, genetic testing, and associated diagnoses.
Academic Article	Lessons from a pair of siblings with BPAN.
Academic Article	COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.
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	The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
Academic Article	De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
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	Widening phenotypic spectrum of GABBR2 mutation.
Academic Article	Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Academic Article	Mutation update for the SATB2 gene.
Academic Article	Satb2 regulates proliferation and nuclear integrity of pre-osteoblasts.
Academic Article	HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Academic Article	Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.
Academic Article	MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article	Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Academic Article	A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Academic Article	CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
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	A clinical scoring system for early onset (neonatal) Marfan syndrome.
Academic Article	Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

Search Criteria

Mutation