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Springer Nature5
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✓Human Genetics5
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20253
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Li-E Sun results 5 · Newest (Page 1/1, per page 25)
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Journal: Human Genetics ×Author: Li-E Sun ×Clear All Filters
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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase ANARA Subscribed
Human Genetics · 2025 · Vol. 144 · Issue 2-3 · Springer
Shantanu Jain; Marena Trinidad; Thanh Binh Nguyen; Kaiya Jones; Santiago Diaz Neto; Fang Ge; Ailin Glagovsky; Cameron Jones; Giankaleb Moran; Boqi Wang; Kobra Rahimi; Sümeyra Zeynep Çalıcı; Luis R. Cedillo; Silvia Berardelli; Buse Özden; Ken Chen; Panagiotis Katsonis; Amanda Williams; Olivier Lichtarge; Sadhna Rana; Swatantra Pradhan; Rajgopal Srinivasan; Rakshanda Sajeed; Dinesh Joshi; Eshel Faraggi; Robert Jernigan; Andrzej Kloczkowski; Jierui Xu; Zigang Song; Selen Özkan; Natàlia Padilla; Xavier de la Cruz; Rocio Acuna-Hidalgo; Andrea Grafmüller; Laura T. Jiménez Barrón; Matteo Manfredi; Castrense Savojardo; Giulia Babbi; Pier Luigi Martelli; Rita Casadio; Yuanfei Sun; Shaowen Zhu; Yang Shen; Fabrizio Pucci; Marianne Rooman; Gabriel Cia; Daniele Raimondi; Pauline Hermans; Sofia Kwee; Ella Chen; Courtney Astore; Akash Kamandula; Vikas Pejaver; Rashika Ramola; Michelle Velyunskiy; Daniel Zeiberg; Reet Mishra; Teague Sterling; Jennifer L. Goldstein; Jose Lugo-Martinez; Sufyan Kazi; Sindy Li; Kinsey Long; Steven E. Brenner; Constantina Bakolitsa; Predrag Radivojac; Dean Suhr; Teryn Suhr; Wyatt T. Clark
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Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challengesNARA Subscribed
Human Genetics · 2025 · Vol. 144 · Issue 2-3 · Springer
Paola Turina; Maria Petrosino; Carlos A. Enriquez Sandoval; Leonore Novak; Alessandra Pasquo; Emil Alexov; Muttaqi Ahmad Alladin; David B. Ascher; Giulia Babbi; Constantina Bakolitsa; Rita Casadio; Jianlin Cheng; Piero Fariselli; Lukas Folkman; Akash Kamandula; Panagiotis Katsonis; Minghui Li; Dong Li; Olivier Lichtarge; Sajid Mahmud; Pier Luigi Martelli; Debnath Pal; Shailesh Kumar Panday; Douglas E. V. Pires; Stephanie Portelli; Fabrizio Pucci; Carlos H. M. Rodrigues; Marianne Rooman; Castrense Savojardo; Martin Schwersensky; Yang Shen; Alexey V. Strokach; Yuanfei Sun; Junwoo Woo; Predrag Radivojac; Steven E. Brenner; Roberta Chiaraluce; Valerio Consalvi; Emidio Capriotti
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Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challengesNARA Subscribed
Human Genetics · 2025 · Vol. 144 · Issue 2-3 · Springer
Paola Turina; Giuditta Dal Cortivo; Carlos A. Enriquez Sandoval; Emil Alexov; David B. Ascher; Giulia Babbi; Constantina Bakolitsa; Rita Casadio; Piero Fariselli; Lukas Folkman; Akash Kamandula; Panagiotis Katsonis; Dong Li; Olivier Lichtarge; Pier Luigi Martelli; Shailesh Kumar Panday; Douglas E. V. Pires; Stephanie Portelli; Fabrizio Pucci; Carlos H. M. Rodrigues; Marianne Rooman; Castrense Savojardo; Martin Schwersensky; Yang Shen; Alexey V. Strokach; Yuanfei Sun; Junwoo Woo; Predrag Radivojac; Steven E. Brenner; Daniele Dell’Orco; Emidio Capriotti
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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinementsNARA Subscribed
Human Genetics · 2014 · Vol. 133 · Issue 3 · Springer
Feng Wang; Hui Wang; Han-Fang Tuan; Duy H. Nguyen; Vincent Sun; Vafa Keser; Sara J. Bowne; Lori S. Sullivan; Hongrong Luo; Ling Zhao; Xia Wang; Jacques E. Zaneveld; Jason S. Salvo; Sorath Siddiqui; Louise Mao; Dianna K. Wheaton; David G. Birch; Kari E. Branham; John R. Heckenlively; Cindy Wen; Ken Flagg; Henry Ferreyra; Jacqueline Pei; Ayesha Khan; Huanan Ren; Keqing Wang; Irma Lopez; Raheel Qamar; Juan C. Zenteno; Raul Ayala-Ramirez; Beatriz Buentello-Volante; Qing Fu; David A. Simpson; Yumei Li; Ruifang Sui; Giuliana Silvestri; Stephen P. Daiger; Robert K. Koenekoop; Kang Zhang; Rui Chen
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Linkage analysis of plasma dopamine β-hydroxylase activity in families of patients with schizophreniaNARA Subscribed
Human Genetics · 2011 · Vol. 130 · Issue 5 · Springer
Joseph F. Cubells; Xiangqing Sun; Wenbiao Li; Robert W. Bonsall; John A. McGrath; Dimitri Avramopoulos; Virginia K. Lasseter; Paula S. Wolyniec; Yi-Lang Tang; Kristina Mercer; Ann E. Pulver; Robert C. Elston
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