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Journal of Medical Genetics
|
December 20, 2011
Further clinical and molecular delineation of the 15q24 microdeletion syndrome
Heather C Mefford, Jill A Rosenfeld, Natasha Shur, et al.
The Lancet. Global Health
|
January 8, 2024
A research definition and framework for acute paediatric critical illness across resource-variable settings: a modified Delphi consensus
Anita V Arias, Michael Lintner-Rivera, Nadeem I Shafi, et al.
Pediatric Neurology
|
November 5, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Jacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 8, 2016
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features
Qing Ouyang, Tojo Nakayama, Ozan Baytas, et al.
The Lancet. Global Health
|
December 15, 2024
Contextual factors influencing bubble continuous positive airway pressure implementation for paediatric respiratory distress in low-income and middle-income countries: a realist review
Nadir Ijaz, Marie Nader, Matthew Ponticiello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
Yuri A Zarate, Tomoko Uehara, Kota Abe, et al.
Molecular Psychiatry
|
October 30, 2024
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay
Senwei Tan, Qiumeng Zhang, Rui Zhan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
The Lancet. Child & Adolescent Health
|
December 24, 2024
Building global collaborative research networks in paediatric critical care: a roadmap
Luregn J Schlapbach, Padmanabhan Ramnarayan, Kristen S Gibbons, et al.
Brain : a Journal of Neurology
|
January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Menelaos Pipis, Shawna M E Feely, James M Polke, et al.
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of 58
Search research articles
Search
Showing results (541-550 of 573) with videos related to
Sort By:
Page
of 58
Journal of Medical Genetics
|
December 20, 2011
Further clinical and molecular delineation of the 15q24 microdeletion syndrome
Heather C Mefford, Jill A Rosenfeld, Natasha Shur, et al.
The Lancet. Global Health
|
January 8, 2024
A research definition and framework for acute paediatric critical illness across resource-variable settings: a modified Delphi consensus
Anita V Arias, Michael Lintner-Rivera, Nadeem I Shafi, et al.
Pediatric Neurology
|
November 5, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Jacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 8, 2016
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features
Qing Ouyang, Tojo Nakayama, Ozan Baytas, et al.
The Lancet. Global Health
|
December 15, 2024
Contextual factors influencing bubble continuous positive airway pressure implementation for paediatric respiratory distress in low-income and middle-income countries: a realist review
Nadir Ijaz, Marie Nader, Matthew Ponticiello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
Yuri A Zarate, Tomoko Uehara, Kota Abe, et al.
Molecular Psychiatry
|
October 30, 2024
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay
Senwei Tan, Qiumeng Zhang, Rui Zhan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
The Lancet. Child & Adolescent Health
|
December 24, 2024
Building global collaborative research networks in paediatric critical care: a roadmap
Luregn J Schlapbach, Padmanabhan Ramnarayan, Kristen S Gibbons, et al.
Brain : a Journal of Neurology
|
January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Menelaos Pipis, Shawna M E Feely, James M Polke, et al.
Page
of 58