Cham Breana - Department of Paediatrics, KK Women’s and Children’s Hospital

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论文共 19 篇作者统计合作学者相似作者

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Adenine Phosphoribosyl Transferase (APRT) Deficiency and a Novel Sequence Variant in APRT with Phenotypic Diversity and a Literature Review

Esther Huimin Leow,Siew Le Chong,Ee Shien Tan,Ai Ling Koh,Breana Wen Min Cham,Celeste Jia Ying Yap,Yong Hong Ng

Nephrologyno. 12 (2023): 649-654

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Stakes of Assessments in Residency: Influence on Previous and Current Self-Regulated Learning and Co-Regulated Learning in Early Career Specialists

Indra Ganesan,Breana Cham,Pim W. Teunissen,Jamiu O. Busari

Perspectives on Medical Educationno. 1 (2023): 237-246

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Inactivation of DRG1, Encoding a Translation Factor GTPase, Causes a Recessive Neurodevelopmental Disorder

Christian A. E. Westrip,Franziska Paul,Fathiya Al-Murshedi,Hashim Qaitoon,Breana Cham,Sally C. Fletcher,Eline Hendrix,Uncaar Boora,Alvin Yu Jin Ng,Carine Bonnard, Maryam Najafi,Salem Alawbathani,Imelda Lambert,Gabriel Fox,Byrappa Venkatesh,Aida Bertoli-Avella,Ee Shien Tan,Almundher Al-Maawali,Bruno Reversade,Mathew L. Coleman

Genetics in medicineno. 9 (2023): 100893-100893

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Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1

Grace Lin,Heming Wei,Angeline H. M. Lai,Ee-Shien Tan,Jiin Ying Lim,Breana Cham,Simon Ling,Saumya S. Jamuar,Ene-Choo Tan

JOURNAL OF PEDIATRIC GENETICS（2023）

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Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context

Nikki Fong,Jiin Ying Lim,Breana Cham,Sylvia Kam,Chew Yin Goh,Heming Wei,Yuen Ming Tan,Hai Yang Law,Weng Khong Lim,Ee Shien Tan,Ene Choo Tan,Saumya Shekhar Jamuar

ANNALS ACADEMY OF MEDICINE SINGAPORE（2022）

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Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian Context

Research Square (Research Square) (2021)

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Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes

Heming Wei,Angeline Lai,Ee Shien Tan,Mark Jean Aan Koh,Ivy Ng,Teck Wah Ting,Terrence Thomas,Breana Cham,Jiin Ying Lim,Sylvia Kam,Chew Yin Jasmine Goh,Grace Lin,Maggie Brett,Derrick Chan,Saumya Shekhar Jamuar,Ene-Choo Tan

ARCHIVES OF DISEASE IN CHILDHOOD（2021）

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Germline AGO2 Mutations Impair RNA Interference and Human Neurological Development

Davor Lessel,Daniela M. Zeitler,Margot R. F. Reijnders,Andriy Kazantsev,Fatemeh Hassani Nia,Alexander Bartholomäus,Victoria Martens,Astrid Bruckmann,Veronika Graus,Allyn McConkie-Rosell,Marie McDonald,Bernarda Lozic,Ee-Shien Tan,Erica Gerkes,Jessika Johannsen,Jonas Denecke,Aida Telegrafi,Evelien Zonneveld-Huijssoon,Henny H. Lemmink,Breana W. M. Cham,Tanja Kovacevic,Linda Ramsdell,Kimberly Foss,Diana Le Duc,Diana Mitter,Steffen Syrbe,Andreas Merkenschlager,Margje Sinnema,Bianca Panis,Joanna Lazier,Matthew Osmond,Taila Hartley,Jeremie Mortreux,Tiffany Busa,Chantal Missirian,Pankaj Prasun,Sabine Lüttgen,Ilaria Mannucci,Ivana Lessel,Claudia Schob,Stefan Kindler,John Pappas,Rachel Rabin,Marjolein Willemsen,Thatjana Gardeitchik,Katharina Löhner,Patrick Rump, Kerith-Rae Dias,Carey-Anne Evans,Peter Ian Andrews,Tony Roscioli,Han G. Brunner,Chieko Chijiwa,M. E. Suzanne Lewis,Rami Abou Jamra,David A. Dyment,Kym M. Boycott,Alexander P. A. Stegmann,Christian Kubisch,Ene-Choo Tan,Ghayda M. Mirzaa,Kirsty McWalter,Tjitske Kleefstra,Rolph Pfundt,Zoya Ignatova,Gunter Meister,Hans-Jürgen Kreienkamp

Nature Communicationsno. 1 (2020)

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Coffin-Siris症候群-1: ARID1B遺伝子における切断変異を伴うアジア人集団からの5症例の報告【JST・京大機械翻訳】

Lian Sophie,Ting Teck Wah,H M Lai Angeline,Tan Ee-Shien,Wei Heming,Cham Breana,Tan Ene-Choo

Journal of the Neurological Sciences (2020)

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