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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 Evaluation of growth in patients with isolated cleft lip and/or cleft palate.
Academic Article Intestinal malrotation in a patient with Pfeiffer syndrome type 2.
Academic Article Genetic causes of macroglossia: diagnostic approach.
Academic Article Lethal presentation of neurofibromatosis and Noonan syndrome.
Academic Article Clinical utility of the X-chromosome array.
Academic Article Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
Academic Article Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome.
Concept Infant, Newborn, Diseases
Concept Infant
Concept Infant, Newborn
Academic Article Description of the first case of adenomyomatosis of the gallbladder in an infant.
Academic Article Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
Academic Article Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.
Academic Article Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.
Academic Article Impact of aortic aneurysm on hospitalizations in patients with marfan syndrome: a multi-institutional study.
Academic Article Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results.
Academic Article STAR syndrome is part of the differential diagnosis of females with anorectal malformations.
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 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 Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
Academic Article An infant with ash-leaf and café au lait spots: a case of double phakomatosis.
Academic Article Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use.
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 Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.
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 Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude 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 Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.
Academic Article Nuclear radiation and prevalence of structural birth defects among infants born to women from the Marshall Islands.
Grant RFA-DD-18-001 Birth Defects Study To Evaluate Pregnancy exposures (BD-STEPS) II Core & Component B Steps -Stillbirth
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 Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene.
Academic Article Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Academic Article Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Academic Article Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Academic Article CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
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.

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