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List of works by Yunia Sribudiani

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

scientific article

Association of Colecalciferol, Ferritin, and Anemia among Pregnant Women: Result from Cohort Study on Vitamin D Status and Its Impact during Pregnancy and Childhood in Indonesia.

scientific article published on 20 May 2018

Association of first trimester maternal vitamin D, ferritin and hemoglobin level with third trimester fetal biometry: result from cohort study on vitamin D status and its impact during pregnancy and childhood in Indonesia

scientific article published on 02 April 2019

CLMP is essential for intestinal development, but does not play a key role in cellular processes involved in intestinal epithelial development

scientific article

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

scientific article published on 4 October 2012

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

scientific article

Description of mutation spectrum and polymorphism of Wilms' tumor 1 (WT1) gene in hypospadias patients in the Indonesian population

scientific article published on 31 January 2018

Epidermal Growth Factor and Adenosine Triphosphate Induce Natrium Iodide Symporter Expression in Breast Cancer Cell Lines

scientific article published on 14 July 2019

Fine mapping of the 9q31 Hirschsprung's disease locus.

scientific article

G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population

scientific article published on 20 December 2019

Germline Mutations and Polymorphisms of Androgen Receptor in Prostate Cancer Patients: Frequency and Results of in Silico Analysis

scientific article published on 24 August 2018

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

scientific article published on 27 March 2018

Pathways systematically associated to Hirschsprung's disease

scientific article published on 02 December 2013

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

scientific article published on 23 September 2015

Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes.

scientific article

Time to Start Delivering Iron Chelation Therapy in Newly Diagnosed Severe <i>β</i>-Thalassemia

scientific article published on 13 December 2020

UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population.

scientific article published on 23 January 2018

Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.

scientific article published on 25 October 2010

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

scientific article

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