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Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency.Practical guidelines for managing adults with 22q11.2 deletion syndromeLater-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B geneGenetic structure characterization of Chileans reflects historical immigration patternsModifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping resultsA combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).The genetic basis of DOORS syndrome: an exome-sequencing studyCase fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.Pathogenesis of preeclampsia: the genetic componentAngiotensin-converting enzyme insertion/deletion polymorphism is associated with severe hypoxemia in pediatric ARDS.Molecular diagnosis in patients with retinoblastoma: Report of a series of cases.Cleft Palate, Interdisciplinary Diagnosis, and Treatment.Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome.Accuracy of a Genetic Test for the Diagnosis of Hypolactasia in Chilean Children: Comparison With the Breath Test.Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.New syndrome? Prominent, constricted ears with malformed condyle of the mandible.Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvementDe Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndromeGrowth in Chilean infants with chromosome 22q11 microdeletion syndromeCystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutationsClinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patientsProbable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and SpainComplex familial rearrangement of chromosome 9p24.3 detected by FISHGenetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletionMapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric IllnessSomatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann SyndromeSystems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and BehaviorAssociation between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysisRare diseases in Chile: challenges and recommendations in universal health coverage context
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description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Gabriela M Repetto
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Gabriela M Repetto
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Gabriela M Repetto
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Gabriela M Repetto
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Gabriela M Repetto
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type
label
Gabriela M Repetto
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Gabriela M Repetto
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Gabriela M Repetto
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Gabriela M Repetto
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Gabriela M Repetto
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Gabriela M. Repetto
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Gabriela M Repetto
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Gabriela M Repetto
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Gabriela M Repetto
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Gabriela M Repetto
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Gabriela M Repetto
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P1053
C-7833-2012
P106
P21
P31
P3829
P496
0000-0003-0120-5684
P569
2000-01-01T00:00:00Z