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Search Results to Yuri Zarate

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Zarate, Yuri

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

Item Type	Name
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 caf? 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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Infant