Therapeutics in paediatric genetic diseases: current and future landscape

por Koh, Ai Ling, Jamuar, Saumya Shekhar
Publicado 2023

Restrictive dermopathy: A baby with taut skin, facial dysmorphism, joint contractures, and pulmonary hypoplasia

por Ng, Wei Di, Koh, Ai Ling, Koh, Mark Jean Aan, Kong, Juin Yee
Publicado 2022

Neonatal Arterial Tortuosity and Adult Aortic Aneurysm—Is There a Missing Link?—A Case Report

por Bharadwaj, Srabani, Chan, Charmaine, Choo Tze Liang, Jonathan, Sanamandra, Sarat Kumar, Fortier, Marielle Valerie, Koh, Ai Ling, Sundararaghavan, Sreekanthan
Publicado 2022

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome

por Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo
Publicado 2019

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement

por Tan, Ene‐Choo, Chia, Shi Yun, Rafi’ee, Khadijah, Lee, Shan Xian, Kwek, Andrew Boon Eu, Tan, Sze Hwa, Ng, Victor Weng Leong, Wei, Heming, Koo, Stephanie, Koh, Ai Ling, Koh, Mark Jean‐Aan
Publicado 2021

Somatic genetic rescue of a germline ribosome assembly defect

por Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick
Publicado 2021

Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect

por Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick
Publicado 2022