المؤلفون: Breana Cham, Jiin Ying Lim, Wendy K.M. Liew, Yuen-Ming Tan, Jyn-Ling Kuan, Bruno Reversades, Raman Sethi, Alvin Yu Jin Ng, Nathalie Escande-Beillard, Alexander Lezhava, Sumanty Tohari, Heming Wei, Arun George Devasia, Deepa Subramanian, Sylvia Kam, Woei Kang Liew, Min Xie, Kanika Jain, Saumya Shekhar Jamuar, Hai-Yang Law, Ee Shien Tan, Nilesh R. Tawari, Swati Tomar, Ene-Choo Tan, Ivy Ng, Carine Bonnard, Grace Lin, Angeline Lai, Chew Yin Jasmine Goh, Perumal Dharuman, Poh San Lai, Arthi Shanmugasundaram, Huilin Chin, Neha Singh Bhatia, Denise L.M. Goh, Maggie Brett, Célia Bosso-Lefèvre, Grace K. Tan, Teck Wah Ting, Roger Foo, Sarah B Ng, Cheuk Ka Tong, Byrappa Venkatesh, Zenia Tiang

المصدر: Archives of Disease in Childhood. 106:31-37

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Developmental Disabilities, Genetic counseling, Psychological intervention, Disease, Undiagnosed Diseases, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Abnormalities, Multiple, Child, Exome sequencing, 030304 developmental biology, Whole genome sequencing, Singapore, 0303 health sciences, business.industry, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, Dysplasia, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, 030217 neurology & neurosurgery, AIDS diagnosis, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9bba7015302a03439efc4b46889a6c9
https://doi.org/10.1136/archdischild-2020-319180

المؤلفون: Bhatia, Neha S., Jiin Ying Lim, Bonnard, Carine, Jyn-Ling Kuan, Brett, Maggie, Heming Wei, Breana Cham, Huilin Chin, Bosso-Lefevre, Celia, Dharuman, Perumal, Escande-Beillard, Nathalie, Devasia, Arun George, Chew Yin Jasmine Goh, Kam, Sylvia, Liew, Wendy Kein-Meng, Woei Kang Liew, Grace Lin, Kanika Jain, Alvin Yu-Jin Ng, Subramanian, Deepa

المصدر: Archives of Disease in Childhood; Jan2021, Vol. 106 Issue 1, p31-37, 7p

مصطلحات موضوعية: GENOMICS, DIAGNOSIS, ETIOLOGY of diseases, DISEASES, HEARING disorders, SEVERE combined immunodeficiency, DYSKINESIAS, RESEARCH, SEQUENCE analysis, RESEARCH methodology, DEVELOPMENTAL disabilities, EVALUATION research, MEDICAL cooperation, MULTIPLE human abnormalities, COMPARATIVE studies

مصطلحات جغرافية: SINGAPORE