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1. Associations between fetal testosterone and pro–social tendencies, anxiety and autistic symptoms in Williams syndrome: a preliminary study. (15th March 2019)

2. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant. Issue 10 (3rd June 2021)

3. Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases. Issue 2 (29th October 2021)

4. Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics. Issue 5 (1st March 2021)

5. Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Issue 5 (9th August 2021)

6. Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA". (8th October 2015)

8. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. Issue 2 (12th December 2020)

9. Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries. (16th March 2015)

10. Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome. Issue 12 (18th August 2021)