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Journal of Musculoskeletal & Neuronal Interactions
|
March 2, 2022
The skeletal muscle phenotype of children with Neurofibromatosis Type 1 - A clinical perspective
Amish Chinoy, Grace R Vassallo, Emma Burkitt Wright, et al.
European Journal of Medical Genetics
|
November 10, 2021
Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists
Cordula M Wolf, Martin Zenker, Emma Burkitt-Wright, et al.
European Journal of Medical Genetics
|
December 13, 2021
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey
Thomas Edouard, Martin Zenker, Ingegerd Östman-Smith, et al.
Molecular Autism
|
October 15, 2024
Developmental trajectories in infants and pre-school children with Neurofibromatosis 1
Hannah Slevin, Fiona Kehinde, Jannath Begum-Ali, et al.
European Journal of Medical Genetics
|
November 10, 2021
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
Sixto García-Miñaúr, Emma Burkitt-Wright, Alain Verloes, et al.
American Journal of Medical Genetics. Part A
|
February 18, 2022
Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018-2019
Yoshua Colyn Collins-Sawaragi, Rosalie Ferner, Grace Vassallo, et al.
European Journal of Human Genetics : EJHG
|
October 16, 2008
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance
Jill Clayton-Smith, Sarah Walters, Emma Hobson, et al.
Journal of Autism and Developmental Disorders
|
May 8, 2021
Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1
Gorana Pobric, Jason R Taylor, Hemavathy M Ramalingam, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2014
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues
Katherine A Rauen, Susan M Huson, Emma Burkitt-Wright, et al.
American Journal of Ophthalmology
|
April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression
Anna Majander, Neringa Jurkute, Florence Burté, et al.
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of 3
Search research articles
Search
Showing results (11-20 of 29) with videos related to
Sort By:
Page
of 3
Journal of Musculoskeletal & Neuronal Interactions
|
March 2, 2022
The skeletal muscle phenotype of children with Neurofibromatosis Type 1 - A clinical perspective
Amish Chinoy, Grace R Vassallo, Emma Burkitt Wright, et al.
European Journal of Medical Genetics
|
November 10, 2021
Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists
Cordula M Wolf, Martin Zenker, Emma Burkitt-Wright, et al.
European Journal of Medical Genetics
|
December 13, 2021
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey
Thomas Edouard, Martin Zenker, Ingegerd Östman-Smith, et al.
Molecular Autism
|
October 15, 2024
Developmental trajectories in infants and pre-school children with Neurofibromatosis 1
Hannah Slevin, Fiona Kehinde, Jannath Begum-Ali, et al.
European Journal of Medical Genetics
|
November 10, 2021
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
Sixto García-Miñaúr, Emma Burkitt-Wright, Alain Verloes, et al.
American Journal of Medical Genetics. Part A
|
February 18, 2022
Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018-2019
Yoshua Colyn Collins-Sawaragi, Rosalie Ferner, Grace Vassallo, et al.
European Journal of Human Genetics : EJHG
|
October 16, 2008
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance
Jill Clayton-Smith, Sarah Walters, Emma Hobson, et al.
Journal of Autism and Developmental Disorders
|
May 8, 2021
Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1
Gorana Pobric, Jason R Taylor, Hemavathy M Ramalingam, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2014
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues
Katherine A Rauen, Susan M Huson, Emma Burkitt-Wright, et al.
American Journal of Ophthalmology
|
April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression
Anna Majander, Neringa Jurkute, Florence Burté, et al.
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of 3