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FARMADITYA EKA PUTRA

Assistant Professor

Master Program of Biomedical Science

Medical Faculty


Publications

dr. Farmaditya Eka Putra, S.Ked, M.Si.Med, Ph.D

Biography

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Polimorfisme gen tnf-α-308g> a pada penderita sindrom down

MAJALAH KEDOKTERAN ANDALAS 37 (1), 44-49, 2015

Authors: S Nurhajjah, SD Ratnaningrum, FEP Mundhofir, SMH Faradz

2015

2 cited

Combination of aspartate aminotranferase and tumor necrosis factor-alfa as non invasive diagnostic tools for non alcoholic steatohepatitis (nash)

ACTA MEDICA INDONESIANA 47 (1), 2015

Authors: HD Purnomo, FEF Mundhofir, K Kasno, E Sudijanto, D Darmono, ...

2015

10 cited

Validation of a commercially available screening tool for the rapid identification of cgg trinucleotide repeat expansions in fmr1

THE JOURNAL OF MOLECULAR DIAGNOSTICS 17 (3), 302-314, 2015

Authors: GXY Lim, YL Loo, FEP Mundhofir, FK Cayami, SMH Faradz, ...

2015

20 cited

Distribusi penderita sindrom down berdasarkan analisis sitogenetika di laboratorium cebior

FACULTY OF MEDICINE, 2015

Authors: I Berlinda, SMH Faradz, F Eka Putra

2015

1 cited

A rare, recurrent, de novo 14q32. 2q32. 31 microdeletion of 1.1 mb in a 20-year-old female patient with a maternal upd (14)-like phenotype and intellectual disability

CASE REPORTS IN GENETICS 2014, 2014

Authors: A Zada, FEP Mundhofir, R Pfundt, N Leijsten, W Nillesen, SMH Faradz, ...

2014

9 cited

Polymorphisme gene tnf-α-308g> a and tlr4 asp299gly in down syndrome

THE 18TH CONGRESS OF THE INTERNATIONAL FEDERATION OF ASSOCIATIONS OF …

Authors: S Nurhajjah, FEP Mundhofir, SMH Faradz

2014

0 cited

Fragile x syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in indonesia

CLINICAL GENETICS 84 (6), 577-580, 2013

Authors: TI Winarni, A Utari, FEP Mundhofir, RJ Hagerman, SMH Faradz

2013

15 cited

The fragile x‐associated tremor ataxia syndrome (fxtas) in indonesia

CLINICAL GENETICS 83 (3), 263-268, 2013

Authors: TI Winarni, FEP Mundhofir, A Ediati, M Belladona, WM Nillesen, ...

2013

2 cited

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in indonesia: a clinical and molecular study

INDIAN JOURNAL OF HUMAN GENETICS 19 (2), 171, 2013

Authors: FEP Mundhofir, WM Nillesen, BWM Van Bon, D Smeets, R Pfundt, ...

2013

15 cited

P. ser252trp and p. pro253arg mutations in fgfr2 gene causing apert syndrome: the first clinical and molecular report of indonesian patients

SINGAPORE MED J 54 (3), E72-E75, 2013

Authors: FE Mundhofir, EA Sistermans, SM Faradz, BC Hamel

2013

11 cited