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1
المؤلفون: Melissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, Sylvia Kam, Jing Xian Teo, Jianhong Ching, Chew Yin Jasmine Goh, Saumya Shekhar Jamuar, Weng Khong Lim, Ai Ling Koh
المصدر: Clinical Dysmorphology.
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, General Medicine, Anatomy, Genetics (clinical), Pathology and Forensic Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51a15c65775ebc5c1b570c156ee07bca
https://doi.org/10.1097/mcd.0000000000000457 -
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المؤلفون: Nikki Fong, Saumya Shekhar Jamuar, Jiin Ying Lim, Chew-Yin Jasmine Goh, Heming Wei, Sylvia Kam, Ene-Choo Tan
المصدر: American Journal of Medical Genetics Part A. 188:672-675
مصطلحات موضوعية: Male, medicine.medical_specialty, business.industry, MEDLINE, medicine.disease, Phenotype, Text mining, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Psychiatry, business, Ubiquitin Thiolesterase, Genetics (clinical)
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المؤلفون: Angeline Lai, Mark Jean Aan Koh, Jiin Ying Lim, Chew Yin Jasmine Goh, Heming Wei, Ene-Choo Tan, Ee Shien Tan, Terrence Thomas, Sylvia Kam, Ivy Ng, Teck Wah Ting, Breana Cham, Derrick Chan, Saumya Shekhar Jamuar, Maggie Brett, Grace Lin
المصدر: Archives of Disease in Childhood. 106:38-43
مصطلحات موضوعية: Genetics, 0303 health sciences, business.industry, 030305 genetics & heredity, Phenotype, Southeast asia, 03 medical and health sciences, symbols.namesake, Clinical diagnosis, Pediatrics, Perinatology and Child Health, Mendelian inheritance, symbols, Medicine, In patient, business, Mendelian disorders, Gene, Exome sequencing, 030304 developmental biology
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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
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المؤلفون: Yuen Ming Tan, Wendy Low, Hui Jing Ee, Weng Khong Lim, Ene-Choo Tan, Jiin Ying Lim, Angeline Lai, Juin Yee Kong, Teck Wah Ting, Hai-Yang Law, Ivy Ng, Nikki Fong, Ee Shien Tan, Ai Ling Koh, Chew Yin Jasmine Goh, Jyn Ling Kuan, Saumya Shekhar Jamuar, Heming Wei, Sylvia Kam, Leng Kee Ching, Breana Cham, Lik Eng Loh
مصطلحات موضوعية: genetic structures, Critically ill, Context (language use), Sociology, Data science, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::129c65a6a236ebe7e845df4928c37b44
https://doi.org/10.21203/rs.3.rs-384663/v1 -
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المؤلفون: Terrence Thomas, Saumya Shekhar Jamuar, Janardhan Krishnappa, Chew-Yin Jasmine Goh, Jiin Ying Lim, Nirmal Visrusthan Kavalloor, Grace Lin, Heming Wei, Ene-Choo Tan
المصدر: American journal of medical genetics. Part AREFERENCES. 182(3)
مصطلحات موضوعية: Male, Microcephaly, business.industry, Developmental Disabilities, Infant, Newborn, Brain, High-Throughput Nucleotide Sequencing, Infant, Computational biology, Biology, medicine.disease, Text mining, Simplified gyral pattern, Tubulin, Child, Preschool, Genetics, medicine, Humans, Female, business, Child, Genetics (clinical)
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المؤلفون: Caroline C P Ong, Ivy Ng, Rashida Farhad Vasanwala, Jiin Ying Lim, Chun Yi Ting, Wan Tew Seow, Vincent Yeow, Neha Singh Bhatia, Chew-Yin Jasmine Goh, Saumya Shekhar Jamuar, Teck Wah Ting
المصدر: European Journal of Medical Genetics. 63:103652
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Micrognathism, Cell Cycle Proteins, 030105 genetics & heredity, Short stature, Craniosynostosis, Craniosynostoses, 03 medical and health sciences, Meier-Gorlin syndrome, Rare Diseases, Exome Sequencing, Genetics, medicine, Humans, Abnormalities, Multiple, Growth Disorders, Genetics (clinical), Exome sequencing, Congenital Microtia, business.industry, Small patellae, Microtia, Patella, General Medicine, medicine.disease, Anorectal Malformations, Hypoplasia, Phenotype, 030104 developmental biology, Mutation, Female, medicine.symptom, business
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8دورية أكاديمية
المؤلفون: Heming Wei, Lai, Angeline, Ee Shien Tan, Koh, Mark Jean Aan, Ng, Ivy, Teck Wah Ting, Thomas, Terrence, Cham, Breana, Jiin Ying Lim, Kam, Sylvia, Chew Yin Jasmine Goh, Grace Lin, Brett, Maggie, Chan, Derrick, Jamuar, Saumya Shekhar, Ene-Choo Tan, Wei, Heming, Tan, Ee Shien, Ting, Teck Wah, Lim, Jiin Ying
المصدر: Archives of Disease in Childhood; Jan2021, Vol. 106 Issue 1, p38-43, 6p
مصطلحات موضوعية: CONGENITAL disorders, PHENOTYPES, FRAGILE X syndrome, GENETIC mutation, ICHTHYOSIS, NEUROFIBROMATOSIS 1, RESEARCH, SEQUENCE analysis, RESEARCH methodology, EVALUATION research, MEDICAL cooperation, MULTIPLE human abnormalities, COMPARATIVE studies, DISEASE susceptibility, GENOMES
مصطلحات جغرافية: SOUTHEAST Asia
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9دورية أكاديمية
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