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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
February 2, 2017
Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history
Brad Tinkle, Marco Castori, Britta Berglund, et al.
Nature Reviews. Disease Primers
|
August 1, 2020
The Ehlers-Danlos syndromes
Fransiska Malfait, Marco Castori, Clair A Francomano, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome
Marco Castori, Michele Valiante, Marco Ritelli, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
December 15, 2015
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16
Marco Castori, Irene Bottillo, Silvia Morlino, et al.
Biomed Research International
|
March 14, 2017
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?
Claudia Celletti, Filippo Camerota, Marco Castori, et al.
Research in Developmental Disabilities
|
October 8, 2013
Use of the gait profile score for the evaluation of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type
Claudia Celletti, Manuela Galli, Veronica Cimolin, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2011
Screening for celiac disease in the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type
Chiara Danese, Marco Castori, Claudia Celletti, et al.
American Journal of Medical Genetics. Part A
|
February 9, 2010
Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients
Marco Castori, Filippo Camerota, Claudia Celletti, et al.
Genes
|
July 2, 2020
A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features
Orazio Palumbo, Pietro Palumbo, Ester Di Muro, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2013
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain
Marco Castori, Silvia Morlino, Marco Ritelli, et al.
Page
of 24
Search research articles
Search
Showing results (81-90 of 239) with videos related to
Sort By:
Page
of 24
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
February 2, 2017
Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history
Brad Tinkle, Marco Castori, Britta Berglund, et al.
Nature Reviews. Disease Primers
|
August 1, 2020
The Ehlers-Danlos syndromes
Fransiska Malfait, Marco Castori, Clair A Francomano, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome
Marco Castori, Michele Valiante, Marco Ritelli, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
December 15, 2015
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16
Marco Castori, Irene Bottillo, Silvia Morlino, et al.
Biomed Research International
|
March 14, 2017
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?
Claudia Celletti, Filippo Camerota, Marco Castori, et al.
Research in Developmental Disabilities
|
October 8, 2013
Use of the gait profile score for the evaluation of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type
Claudia Celletti, Manuela Galli, Veronica Cimolin, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2011
Screening for celiac disease in the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type
Chiara Danese, Marco Castori, Claudia Celletti, et al.
American Journal of Medical Genetics. Part A
|
February 9, 2010
Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients
Marco Castori, Filippo Camerota, Claudia Celletti, et al.
Genes
|
July 2, 2020
A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features
Orazio Palumbo, Pietro Palumbo, Ester Di Muro, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2013
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain
Marco Castori, Silvia Morlino, Marco Ritelli, et al.
Page
of 24