Patria, Yudha: search on Z-Library

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1

Sodium channels of SCNIA gene mutations in generalized epilepsy with febrile seizure plus (GEFS+) spectrum related to autism

Herini, Elisabeth, Patria, Yudha, Gunadi, Gunadi, Yusoff, Surini, Harahap, Indra SAri Kusuma, Sunartini, Sunartini, Sutaryo, Sutaryo, Takada, Satoshi, Nishio, Hisahide

Journal:

Paediatrica Indonesiana

Year:

2010

Language:

english

File:

PDF, 428 KB

english, 2010

2

Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: Clinical manifestations and SCN1A mutations in Indonesian patients

Elisabeth Siti Herini, Gunadi, Indra Sari Kusuma Harahap, Surini Yusoff, Satoru Morikawa, Suryono Yudha Patria, Noriyuki Nishimura, Sunartini, Sutaryo, Satoshi Takada, Masafumi Matsuo, Hisahide Nishio

Journal:

Epilepsy Research

Year:

2010

Language:

english

File:

PDF, 1.15 MB

english, 2010

3

Early cardiac failure in a child with Becker muscular dystrophy is due to an abnormally low amount of dystrophin transcript lacking exon 13

CHIEKO ISHIGAKI, SURYONO YUDHA PATRIA, HISAHIDE NISHIO, AKIRA YOSHIOKA, MASAFUMI MATSUO

Journal:

Pediatrics International

Year:

1997

Language:

english

File:

PDF, 498 KB

english, 1997

4

Detection of the jaundice-related G71R mutation in the UGT1A1 gene by denaturing high performance liquid chromatography (DHPLC)

Sutomo, Retno, Hapsara, Sunartini, Patria, Suryono Yudha, Nakamura, Hajime

Journal:

Paediatrica Indonesiana

Year:

2009

Language:

english

File:

PDF, 169 KB

english, 2009

5

Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy

Elisabeth Siti Herini, Gunadi, Marjan J.A. Van Kempen, Surini Yusoff, Sutaryo, Sunartini, Suryono Yudha Patria, Masafumi Matsuo, Dick Lindhout, Hisahide Nishio

Journal:

Pediatrics International

Year:

2010

Language:

english

File:

PDF, 339 KB

english, 2010

6

Met 235 the polymorphism of angiotensinogen in indonesians

M. Mansyur Romi, Suryono Yudha Patria, Masafumi Matsuo

Journal:

Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 138 KB

english, 1997

7

Sex hormone-binding globulin (SHBG) is a potential early diagnostic biomarker for gastric cancer

Cheng, Chao-Wen, Chang, Che-Chang, Patria, Yudha Nur, Chang, Ruei-Ting, Liu, Yun-Ru, Li, Fu-An, Shih, Hsiu-Ming, Lin, Ching-Yu

Journal:

Cancer Medicine

Year:

2017

Language:

english

File:

PDF, 387 KB

english, 2017

8

Risk factors of cerebral palsy in the perinatal period

Gunarwati, Santi, Patria, S. Yudha, Julia, Madarina

Journal:

Paediatrica Indonesiana

Year:

2016

Language:

english

File:

PDF, 172 KB

english, 2016

9

Predictive factors of ketoacidosis in type 1 diabetes mellitus

Listianingrum, Listianingrum, Patria, Suryono Yudha, Wibowo, Tunjung

Journal:

Paediatrica Indonesiana

Year:

2019

File:

PDF, 235 KB

2019

10

Generation of a SOX9-tdTomato reporter human iPSC line, MCRIi001-A-2, using CRISPR/Cas9 editing

Nur Patria, Yudha, Lilianty, Jinia, Elefanty, Andrew G., Stanley, Edouard G., Labonne, Tanya, Bateman, John F., Lamandé, Shireen R.

Journal:

Stem Cell Research

Year:

2020

File:

PDF, 1.13 MB

2020

11

Effect of FTO rs9939609 variant on insulin resistance in obese female adolescents

Iskandar, Kristy, Patria, Suryono Yudha, Huriyati, Emy, Luglio, Harry Freitag, Julia, Madarina, Susilowati, Rina

Journal:

BMC Research Notes

Year:

2018

Language:

english

File:

PDF, 923 KB

english, 2018

12

A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis

Suryono Yudha Patria, Yasuhiro Takeshima, Ryo Suminaga, Hajime Nakamura, Ryu Iwasaki, Tomomi Minagawa, Masafumi Matsuo

Journal:

Brain and Development

Year:

1999

Language:

english

File:

PDF, 168 KB

english, 1999

13

CRISPR/Cas9 gene editing of a SOX9 reporter human iPSC line to produce two TRPV4 patient heterozygous missense mutant iPSC lines, MCRIi001-A-3 (TRPV4 p.F273L) and MCRIi001-A-4 (TRPV4 p.P799L)

Nur Patria, Yudha, Stenta, Tayla, Lilianty, Jinia, Rowley, Lynn, Stanley, Edouard G., Elefanty, Andrew G., Bateman, John F., LamandÃ©, Shireen R.

Journal:

Stem Cell Research

Year:

2020

File:

PDF, 1.44 MB

2020

14

Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing

Hosseini Far, Hani, Patria, Yudha Nur, Motazedian, Ali, Elefanty, Andrew G., Stanley, Edouard G., Lamandé, Shireen R., Bateman, John F.

Journal:

Stem Cell Research

Year:

2019

Language:

english

File:

PDF, 1.18 MB

english, 2019

15

Intracranial hemorrhage in infants after massaged by a traditional birth attendant

Herini, Elisabeth S., Hapsara, Sunartini, Patria, S. Yudha

Journal:

Paediatrica Indonesiana

Year:

2007

File:

PDF, 1.01 MB

2007

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