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Orphanet Journal of Rare Diseases
|
May 29, 2026
Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation
Ania C Muntau, Rongrong Zhang, Anupam Chakrapani, et al.
Annals of Neurology
|
November 17, 2022
Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis
Alexander L Cohen, Mallory R Kroeck, Juliana Wall, et al.
Journal of Child Neurology
|
May 16, 2024
Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures
Siddharth Srivastava, Fanghan Yang, Anna K Prohl, et al.
Molecular Genetics and Metabolism Reports
|
May 2, 2024
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program
Cary O Harding, Nicola Longo, Hope Northrup, et al.
Cerebral Cortex (New York, N.Y. : 1991)
|
December 9, 2019
The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex
Benoit Scherrer, Anna K Prohl, Maxime Taquet, et al.
Molecular Genetics and Metabolism
|
December 3, 2023
Best practice recommendations for the management of anxiety during the pegvaliase journey
Kendra J Bjoraker, Caroline Eggerding, Elisheva Ellenberg, et al.
Molecular Genetics and Metabolism
|
April 15, 2018
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
Janet Thomas, Harvey Levy, Stephen Amato, et al.
Journal of Neurodevelopmental Disorders
|
December 17, 2019
Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder
Anna K Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
October 22, 2008
Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals
Kit Sing Au, Phong X Tran, Chester C Tsai, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2022
Patterns of co-occurring birth defects in children with anotia and microtia
Jeremy M Schraw, Renata H Benjamin, Charles J Shumate, et al.
Page
of 16
Search research articles
Search
Showing results (101-110 of 157) with videos related to
Sort By:
Page
of 16
Orphanet Journal of Rare Diseases
|
May 29, 2026
Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation
Ania C Muntau, Rongrong Zhang, Anupam Chakrapani, et al.
Annals of Neurology
|
November 17, 2022
Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis
Alexander L Cohen, Mallory R Kroeck, Juliana Wall, et al.
Journal of Child Neurology
|
May 16, 2024
Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures
Siddharth Srivastava, Fanghan Yang, Anna K Prohl, et al.
Molecular Genetics and Metabolism Reports
|
May 2, 2024
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program
Cary O Harding, Nicola Longo, Hope Northrup, et al.
Cerebral Cortex (New York, N.Y. : 1991)
|
December 9, 2019
The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex
Benoit Scherrer, Anna K Prohl, Maxime Taquet, et al.
Molecular Genetics and Metabolism
|
December 3, 2023
Best practice recommendations for the management of anxiety during the pegvaliase journey
Kendra J Bjoraker, Caroline Eggerding, Elisheva Ellenberg, et al.
Molecular Genetics and Metabolism
|
April 15, 2018
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
Janet Thomas, Harvey Levy, Stephen Amato, et al.
Journal of Neurodevelopmental Disorders
|
December 17, 2019
Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder
Anna K Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
October 22, 2008
Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals
Kit Sing Au, Phong X Tran, Chester C Tsai, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2022
Patterns of co-occurring birth defects in children with anotia and microtia
Jeremy M Schraw, Renata H Benjamin, Charles J Shumate, et al.
Page
of 16