Works matching AU Chin, Hui‐Lin

Results: 17

An infant with hair like fur of a teddy bear.

Published in:

2020

By:

Lin, Jeremy;
Wang, Furene;
Chin, Hui‐lin;
Han, Velda;
Chin, Hui-Lin

Publication type:

journal article

Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-92520-9

By:

Lim, Tina Si Ting;
Koh, Chee Teck;
Savige, Judith;
Ng, Alvin Yu-Jin;
Ng, Jun Li;
Chin, Hui-Lin;
Lim, Weng Khong;
Chan, Gek Cher;
Yeo, See Cheng;
Leow, Esther Hui Min;
Yan, Benedict Junrong;
Ng, Kar Hui;
Zhang, Yaochun

Publication type:

Article

The utterance-final particle la in Taiwan Mandarin.

Published in:

Linguistics in the Netherlands, 2010, v. 27, n. 1, p. 101, doi. 10.1075/avt.27.09lin

By:

Chin-hui Lin

Publication type:

Article

Proteomic analysis of Exosomes derived from the Aqueous Humor of Myopia Patients.

Published in:

International Journal of Medical Sciences, 2021, v. 18, n. 9, p. 2023, doi. 10.7150/ijms.51735

By:

Ching-Yao Tsai;
Chueh-Tan Chen;
Chin-Hui Lin;
Chen-Chung Liao;
Kate Hua;
Chung-Hua Hsu;
Chian-Feng Chen

Publication type:

Article

Expression Profiling of Exosomal miRNAs Derived from the Aqueous Humor of Myopia Patients.

Published in:

Tohoku Journal of Experimental Medicine, 2019, v. 249, n. 3, p. 213, doi. 10.1620/tjem.249.213

By:

Chian-Feng Chen;
Kate Hua;
Lin-Chung Woung;
Chin-Hui Lin;
Chueh-Tan Chen;
Chung-Hua Hsu;
Shiow-Wen Liou;
Ching-Yao Tsai

Publication type:

Article

A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.

Published in:

Journal of Molecular Medicine, 2019, v. 97, n. 11, p. 1557, doi. 10.1007/s00109-019-01834-5

By:

Chin, Hui-Lin;
Goh, Denise Li-Meng;
Wang, Furene Sijia;
Tay, Stacey Kiat Hong;
Heng, Chew Kiat;
Donnini, Claudia;
Baruffini, Enrico;
Pines, Ophry

Publication type:

Article

Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1589, doi. 10.1002/ajmg.a.62676

By:

Boerkoel, Pierre K.;
Dixon, Katherine;
Fitzsimons, Carrie;
Shen, Yaoqing;
Huynh, Stephanie;
Schlade‐Bartusiak, Kamilla;
Culibrk, Luka;
Chan, Simon;
Boerkoel, Cornelius F.;
Jones, Steven J. M.;
Chin, Hui‐Lin

Publication type:

Article

An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 926, doi. 10.1002/ajmg.a.62578

By:

Chin, Hui‐Lin;
Huynh, Stephanie;
Ashkani, Jahanshah;
Castaldo, Michael;
Dixon, Katherine;
Selby, Kathryn;
Shen, Yaoqing;
Wright, Marie;
Boerkoel, Cornelius F.;
Hendson, Glenda;
Jones, Steven J. M.

Publication type:

Article

Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1‐related disease.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 332, doi. 10.1002/ajmg.a.62510

By:

Moller‐Hansen, Ashley;
Huynh, Stephanie;
Boerkoel, Cornelius F.;
Chin, Hui‐Lin

Publication type:

Article

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2541, doi. 10.1002/ajmg.a.62349

By:

Chin, Hui‐Lin;
O'Neill, Kieran;
Louie, Kristal;
Brown, Lindsay;
Schlade‐Bartusiak, Kamilla;
Eydoux, Patrice;
Rupps, Rosemarie;
Farahani, Ali;
Boerkoel, Cornelius F.;
Jones, Steven J. M.

Publication type:

Article

Medium and Large Artery Aneurysms in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Published in:

Annals of Neurology, 2024, v. 96, n. 4, p. 726, doi. 10.1002/ana.27004

By:

Tan, Sarah Ming Li;
Chin, Hui‐Lin;
Makmur, Andrew;
Tan, Benjamin Y.Q.

Publication type:

Article

Analysis of Pitch Perception of Inharmonicity in Pipa Strings Using Response Surface Methodology.

Published in:

Journal of New Music Research, 2010, v. 39, n. 1, p. 63, doi. 10.1080/09298210903477260

By:

Chin, Shin Hui Lin;
Berger, Jonathan

Publication type:

Article

Clinical Implementation of Nephrologist-Led Genomic Testing for Glomerular Diseases in Singapore: Rationale and Protocol.

Published in:

American Journal of Nephrology, 2025, v. 56, n. 2, p. 158, doi. 10.1159/000542942

By:

Lim, Cynthia;
Lim, Ru Sin;
Choo, Jason;
Leow, Esther Huimin;
Chan, Gek Cher;
Zhang, Yaochun;
Ng, Jun Li;
Chin, Hui-Lin;
Tan, Ee Shien;
Goh, Jeannette;
Gandhi, Naline;
Ng, Yong Hong;
Than, Mya;
Ganesan, Indra;
Chong, Siew Le;
Yap, Celeste;
Chao, Sing Ming;
Cham, Breana;
Kam, Sylvia;
Lim, Jiin Ying

Publication type:

Article

New Genotypes of Orientia tsutsugamushi Isolated from Humans in Eastern Taiwan.

Published in:

PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0046997

By:

Hui-Hua Yang;
I-Tsong Huang;
Chin-Hui Lin;
Tren-Yi Chen;
Li-Kuang Chen

Publication type:

Article

Identification of novel cancer fusion genes using chromosome breakpoint screening.

Published in:

Oncology Reports, 2017, v. 37, n. 4, p. 2101, doi. 10.3892/or.2017.5492

By:

KATE HUA;
CHIN-HUI LIN;
YA-LUN CHEN;
CHI-HUNG LIN;
YUEH-HSIN PING;
YUH-SHAN JOU;
CHIAN-FENG CHEN

Publication type:

Article

Genetics in Ischemic Stroke: Current Perspectives and Future Directions.

Published in:

Journal of Cardiovascular Development & Disease (JCDD), 2023, v. 10, n. 12, p. 495, doi. 10.3390/jcdd10120495

By:

Zhang, Ka;
Loong, Shaun S. E.;
Yuen, Linus Z. H.;
Venketasubramanian, Narayanaswamy;
Chin, Hui-Lin;
Lai, Poh San;
Tan, Benjamin Y. Q.

Publication type:

Article

Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling.

Published in:

2024

By:

Chin, Hui‐Lin;
Benton, Miles C.;
Yang, Lin;
Poon, Kok Siong;
Tan, Karen M. L.;
Jamuar, Saumya S.;
Foo, Roger;
Law, Hai Yang;
Goh, Denise Li‐Meng;
Chong, Samuel S.;
de Sessions, Paola Florez

Publication type:

Case Study