about
Genetic causes of macroglossia: diagnostic approach.Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 MutationAortic dilation, genetic testing, and associated diagnoses.Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.A case of minimal change disease in a Fabry patient.Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.Evaluation of growth in patients with isolated cleft lip and/or cleft palate.Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.Bone health and SATB2-associated syndrome.Description of another case of 3q26.33-3q27.2 microdeletion supports a recognizable phenotype.Phenotypic and microscopic description of a new case of Ermine phenotype.A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.Clinical utility of the X-chromosome array.Intestinal malrotation in a patient with Pfeiffer syndrome type 2.Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosisDental radiographic findings in 18 individuals with SATB2-associated syndromeExperience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocolMutation update for the SATB2 geneFabry's disease47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversalTwin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndromeLethal presentation of neurofibromatosis and Noonan syndromePapillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1BPersistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11pUsing facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institutionSpeech, language, and feeding phenotypes of SATB2-associated syndromeHIST1H1E 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 individualsBehavioral phenotype and sleep problems in SATB2-associated syndromeConstitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndromeActivating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy
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P50
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հետազոտող
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Yuri A Zarate
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Yuri A Zarate
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Yuri A Zarate
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Yuri A Zarate
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Yuri A Zarate
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