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Mutations in NR5A1 associated with ovarian insufficiencyThe novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiencyOverweight and obesity in children and adolescents with Down syndrome-prevalence, determinants, consequences, and interventions: A literature review.Two Novel Mutations in the Thyroid Hormone Receptor β in Patients with Resistance to Thyroid Hormone (RTH β): Clinical, Biochemical, and Molecular Data.Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiencyGrowth curves for girls with Turner syndrome.Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family.Klinefelter syndrome: an unusual diagnosis in pediatric patients.Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males.Cross-sectional study of the association of body composition and physical fitness with bone status in children and adolescents from 11 to 16 years old.Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency.Brazilian pediatric reference data for quantitative ultrasound of phalanges according to gender, age, height and weight.NPHS2 mutations account for only 15% of nephrotic syndrome cases.Disorders of sex development and hypogonadism: genetics, mechanism, and therapies.Cranial radiotherapy predisposes to abdominal adiposity in survivors of childhood acute lymphocytic leukemia.Accuracy of Body Mass Index Cutoffs for Classifying Obesity in Chilean Children and AdolescentsDetection of metabolic syndrome features among childhood cancer survivors: a target to prevent disease.408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.Central precocious puberty: revisiting the diagnosis and therapeutic management.The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies.Validity of Bioelectrical Impedance Analysis to Estimation Fat-Free Mass in the Army Cadets.46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis.Minimum Time to Achieve the Steady State and Optimum Abbreviated Period to Estimate the Resting Energy Expenditure by Indirect Calorimetry in Healthy Young Adults.New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome.NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.NPHS2 Mutations: A Closer Look to Latin American Countries.Corrigendum to "Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents"Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil.Clinical and laboratory profile of pediatric and adolescent patients with type 1 diabetes.True agonadism: report of a case analyzed with Y-specific DNA probes.Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency.Secular trends of height, weight and BMI in young adult Brazilian military students in the 20th century.Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases.Influence of programmed physical activity on body composition among adolescent students.Cardiovascular and renal anomalies in Turner syndrome.Genetic predictors of long-term response to growth hormone (GH) therapy in children with GH deficiency and Turner syndrome: the influence of a SOCS2 polymorphism.[Diabetic ketoacidosis in children: treatment profile at a university hospital].New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Gil Guerra-Junior
@ast
Gil Guerra-Junior
@en
Gil Guerra-Junior
@es
Gil Guerra-Junior
@nl
Gil Guerra-Junior
@sl
type
label
Gil Guerra-Junior
@ast
Gil Guerra-Junior
@en
Gil Guerra-Junior
@es
Gil Guerra-Junior
@nl
Gil Guerra-Junior
@sl
prefLabel
Gil Guerra-Junior
@ast
Gil Guerra-Junior
@en
Gil Guerra-Junior
@es
Gil Guerra-Junior
@nl
Gil Guerra-Junior
@sl
P1053
C-1609-2012
P106
P21
P31
P3829
P496
0000-0002-2991-7678
P569
2000-01-01T00:00:00Z