Kết quả tìm kiếm - Rachel Stapleton
- Đang hiển thị 1 - 3 kết quả của 3
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1
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases Bằng Francesca Novara, Berardo Rinaldi, Sanjay M. Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny M.A. van Ravenswaaij‐Arts, Wilhelmina S. Kerstjens‐Frederikse, Joris Vermeesch, Koenraad Devriendt, Carlos A. Bacino, Andrée Delahaye‐Duriez, Saskia M. Maas, Achille Iolascon, Orsetta Zuffardi
Được phát hành 2017Artigo -
2
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review Bằng Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin B. Delatycki, Alison Yeung, Matthew F. Hunter, David J. Amor, Natasha J. Brown, Chloe Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul‐Fernández, Justine E. Marum, Dean Phelan, Lynn Pais, Susan M. White, Sebastian Lunke, Tiong Yang Tan
Được phát hành 2020Revisão -
3
Meeting the challenges of implementing rapid genomic testing in acute pediatric care Bằng Zornitza Stark, Sebastian Lunke, Gemma R. Brett, Natalie B. Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean Phelan, Belinda Chong, Miriam Fanjul‐Fernández, Justine E. Marum, Matthew F. Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R. Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Yang Tan, Clara Gaff, Susan M. White
Được phát hành 2018Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Medicine
Biology
Gene
Genetics
Pediatrics
Phenotype
Autism
Copy-number variation
Disease
Emergency medicine
Endocrinology
Exome
Exome sequencing
Genome
Haploinsufficiency
Intellectual disability
Intensive care medicine
Internal medicine
Medical diagnosis
Microdeletion syndrome
Multidisciplinary approach
Multidisciplinary team
Nursing
Pathology
Psychiatry
Rare disease
Rubinstein–Taybi syndrome
Short stature
Social science
Sociology