Resultats de la cerca - Tan, Ene-Choo

Clinical application of next-generation sequencing for Mendelian diseases per Jamuar, Saumya Shekhar, Tan, Ene-Choo

Obtenir text complet Obtenir text complet Obtenir text complet

De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus per Tan, Ene-Choo, Lim, Eileen CP, Lee, Seng-Teik

Obtenir text complet Obtenir text complet Obtenir text complet

Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype per Kwong, Hui Li, Tay, Yong-Kwang, Tan, Ene-Choo

Obtenir text complet Obtenir text complet Obtenir text complet

Smoking and tardive dyskinesia: lack of involvement of the CYP1A2 gene per Chong, Siow-Ann, Tan, Ene-Choo, Tan, Chay Hoon, &NA;

Obtenir text complet Obtenir text complet

Correlation of cord blood telomere length with birth weight per Lee, Siew-Peng, Hande, Prakash, Yeo, George SH, Tan, Ene-Choo

Obtenir text complet Obtenir text complet Obtenir text complet

AB024. Chromosome microarray analysis (CMA) for the diagnosis of children with developmental delay and multiple congenital anomalies in Singapore per Law, Hai-Yang, Brett, Maggie, Tan, Ene-Choo, Yong, Min-Hwee, Lai, Angeline

Obtenir text complet Obtenir text complet

AB093. Report of a SMARCA4 variant identified in a patient with Coffin-Siris syndrome per Loke, Mun Fai, Jamuar, Saumya Shekhar, Lim, Eileen Chew Ping, Tan, Ene Choo

Obtenir text complet Obtenir text complet

Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis per Loo, Benny Kai Guo, Batilando, Melissa Jeanne, Tan, Ene Choo, Koh, Mark Jean Aan

Obtenir text complet Obtenir text complet Obtenir text complet

Deep sequencing analysis to identify novel and rare variants in pain-related genes in patients with acute postoperative pain and high morphine use per Loke, Mun-Fai, Wei, Heming, Yeo, Junjie, Sng, Ban-Leong, Sia, Alex T, Tan, Ene-Choo

Obtenir text complet Obtenir text complet Obtenir text complet

Ethnicity and OPRM variant independently predict pain perception and patient-controlled analgesia usage for post-operative pain per Tan, Ene-choo, Lim, Eileen CP, Teo, Yik-ying, Lim, Yvonne, Law, Hai-yang, Sia, Alex T

Obtenir text complet Obtenir text complet Obtenir text complet

Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern per Tan, Ee-Shien, Yong, Min-Hwee, Lim, Eileen CP, Li, Zhi-hui, Brett, Maggie SY, Tan, Ene-Choo

Obtenir text complet Obtenir text complet Obtenir text complet

Investigation of variants in estrogen receptor genes and perinatal depression per Tan, Ene-Choo, Lim, Hwee-Woon, Chua, Tze-Ern, Tan, Hui-San, Lee, Theresa MY, Chen, Helen Y

Obtenir text complet Obtenir text complet Obtenir text complet

Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation per Nagaputra, Jerry C., Koh, Mark J.A., Brett, Maggie, Lim, Eileen C.P., Lim, Hwee-Woon, Tan, Ene-Choo

Obtenir text complet Obtenir text complet Obtenir text complet

AB151. CHD7 variants identified by next-generation sequencing per Lee, Siew Peng, Brett, Maggie, Lim, Eileen, Lai, Angeline, Tan, Ee Shien, Lim, Jiin Ying, Cham, Breana, Tan, Ene Choo

Obtenir text complet Obtenir text complet

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome per Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo

Obtenir text complet Obtenir text complet Obtenir text complet

Investigating analgesic and psychological factors associated with risk of postpartum depression development: a case–control study per Suhitharan, Thangavelautham, Pham, Thi Phuong Tu, Chen, Helen, Assam, Pryseley Nkouibert, Sultana, Rehena, Han, Nian-Lin Reena, Tan, Ene-Choo, Sng, Ban Leong

Obtenir text complet Obtenir text complet Obtenir text complet

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel per Brett, Maggie, McPherson, John, Zang, Zhi Jiang, Lai, Angeline, Tan, Ee-Shien, Ng, Ivy, Ong, Lai-Choo, Cham, Breana, Tan, Patrick, Rozen, Steve, Tan, Ene-Choo

Obtenir text complet Obtenir text complet Obtenir text complet

AB097. Clinical and molecular characterization of patients with 6p25 deletion syndrome per Lim, Jiin Ying, Jamuar, Saumya Shekhar, Cham, Breana Wen Min, Brett, Maggie, Tan, Ee Shien, Ng, Ivy, Law, Hai Yang, Tan, Ene Choo, Lai, Angeline Hwei Meeng

Obtenir text complet Obtenir text complet

MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report per Chin, Xinyi, Sreedharan, Aravind Venkatesh, Tan, Ene Choo, Wei, Heming, Kuan, Jyn Ling, Ho, Christopher Wen Wei, Lam, Joyce Ching Mei, Ting, Teck Wah, Vasanwala, Rashida Farhad

Obtenir text complet Obtenir text complet Obtenir text complet

Dataset on gene expression in the elderly after Mindfulness Awareness Practice or Health Education Program per Lim, Hwee-Woon, Saw, Woei-Yuh, Feng, Lei, Lee, Yuan-Kun, Mahendran, Ratha, Cheah, Irwin Kee-Mun, Rawtaer, Iris, Kumar, Alan Prem, Kua, Ee-Heok, Mahendran, Rathi, Tan, Ene-Choo

Obtenir text complet Obtenir text complet Obtenir text complet