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论文共 23 篇作者统计合作学者相似作者

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A Ten-Year Retrospective Analysis of Urea Cycle Disorder Diagnosis, One Center's Experience
Erin MacLeod, Allison Failla,Kara Simpson,Nicholas Ah. Mew
Molecular Genetics and Metabolismno. 4 (2024): 108232-108232
引用0浏览0引用
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Examining Roles, Challenges, and Opportunities Within the Metabolic Genetics Workforce
Kara Simpson, Stephanie Offord, Chanel Suares, Jerry Vockley
American journal of medical genetics Part App.e63889-e63889, (2024)
引用0浏览0WOS引用
0
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Madelyn A. Gillentine,Tianyun Wang,Kendra Hoekzema,Jill Rosenfeld,Pengfei Liu,Hui Guo,Chang N. Kim,Bert B. A. De Vries,Lisenka E. L. M. Vissers,Magnus Nordenskjold,Malin Kvarnung,Anna Lindstrand,Ann Nordgren,Jozef Gecz,Maria Iascone,Anna Cereda,Agnese Scatigno,Silvia Maitz,Ginevra Zanni,Enrico Bertini,Christiane Zweier,Sarah Schuhmann,Antje Wiesener,Micah Pepper, Heena Panjwani,Erin Torti,Farida Abid,Irina Anselm,Siddharth Srivastava,Paldeep Atwal,Carlos A. Bacino,Gifty Bhat,Katherine Cobian,Lynne M. Bird,Jennifer Friedman,Meredith S. Wright,Bert Callewaert,Florence Petit,Sophie Mathieu,Alexandra Afenjar,Celenie K. Christensen,Kerry M. White,Orly Elpeleg,Itai Berger, Edward J. Espineli,Christina Fagerberg,Charlotte Brasch-Andersen,Lars Kjærsgaard Hansen,Timothy Feyma,Susan Hughes,Isabelle Thiffault,Bonnie Sullivan,Shuang Yan,Kory Keller,Boris Keren,Cyril Mignot,Frank Kooy,Marije Meuwissen,Alice Basinger,Mary Kukolich, Meredith Philips,Lucia Ortega,Margaret Drummond-Borg,Mathilde Lauridsen,Kristina Sorensen,Anna Lehman,Elena Lopez-Rangel,Paul Levy,Davor Lessel,Timothy Lotze,Suneeta Madan-Khetarpal,Jessica Sebastian,Jodie Vento,Divya Vats, L. Manace Benman,Shane Mckee,Ghayda M. Mirzaa,Candace Muss,John Pappas,Hilde Peeters,Corrado Romano,Maurizio Elia,Ornella Galesi,Marleen E. H. Simon,Koen L. I. van Gassen,Kara Simpson,Robert Stratton,Sabeen Syed,Julien Thevenon,Irene Valenzuela Palafoll,Antonio Vitobello,Marie Bournez,Laurence Faivre,Kun Xia, John Acampado,Rachel K. Earl,Tomasz Nowakowski,Raphael A. Bernier,Evan E. Eichler
GENOME MEDICINE（2021）
引用42浏览0WOS引用
42
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From Genotype to Phenotype: Early Prediction of Disease Severity in Argininosuccinic Aciduria
Matthias Zielonka,Sven F. Garbade,Florian Gleich,Juergen G. Okun,Sandesh C. S. Nagamani,Andrea L. Gropman,Georg F. Hoffmann,Stefan Koelker,Roland Posset,Jennifer Seminara,Saima Ali, Sondra Bloxam, Kia Bryan, Sara Elsbecker, Joan Hart, Melanie Horn, Elijah Kravets, Audrey Lynn,Mary Mullins, Maya Muldowney,Kendall Parks,Ulrike Mutze, Thu Quan,Kara Simpson, Julia Smith, Suzanne Hollander, Hayden Vreugdenhil,Fabienne Dietrich Alber, Talin Babikian, Heidi Bender, Christopher Boys, David Breiger,Mina Nguyen-Driver, Benjamin Goodlett, Elizabeth Kerr, Casey Krueger, Eva Mamak,Jacqueline H. Sanz, David Schwartz,Arianna K. Stefanatos, Rachel Tangen,Greta N. Wilkening
Human mutation（2020）
引用9浏览0WOS引用
9
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作者统计

#Papers: 23

#Citation: 136

H-Index: 4

G-Index: 6

Sociability: 5

Diversity: 1

Activity: 15

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