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Clinical Dysmorphology
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June 19, 2018
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata
Elise Brimble, Michelle Pacione, Ellyn Farrelly, et al.
American Journal of Medical Genetics. Part A
|
September 16, 2004
Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype
David A Stevenson, Arthur R Brothman, Zhong Chen, et al.
Human Molecular Genetics
|
July 16, 2011
Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I
Weixi Wang, Jeffry S Nyman, Koichiro Ono, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 15, 2018
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Douglas R Stewart, Bruce R Korf, Katherine L Nathanson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2022
Factors associated with the time to complete clinical exome sequencing in a pediatric patient population
Gabriella Lee, Linbo Yu, Carlos J Suarez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 5, 2018
Response to Hannah-Shmouni and Stratakis
Douglas R Stewart, Bruce R Korf, Katherine L Nathanson, et al.
American Journal of Medical Genetics. Part A
|
April 14, 2007
Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster
David A Stevenson, Steven B Bleyl, Teresa Maxwell, et al.
American Journal of Medical Genetics. Part A
|
March 31, 2012
Analysis of skeletal dysplasias in the Utah population
David A Stevenson, John C Carey, Janice L B Byrne, et al.
American Journal of Medical Genetics. Part A
|
April 10, 2014
Screening children with neurofibromatosis type 1 for autism spectrum disorder
Jade Tinker, Paul S Carbone, David Viskochil, et al.
Pediatrics
|
March 3, 2006
Clinical characteristics and natural history of Freeman-Sheldon syndrome
David A Stevenson, John C Carey, Janice Palumbos, et al.
Page
of 17
Search research articles
Search
Showing results (31-40 of 166) with videos related to
Sort By:
Page
of 17
Clinical Dysmorphology
|
June 19, 2018
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata
Elise Brimble, Michelle Pacione, Ellyn Farrelly, et al.
American Journal of Medical Genetics. Part A
|
September 16, 2004
Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype
David A Stevenson, Arthur R Brothman, Zhong Chen, et al.
Human Molecular Genetics
|
July 16, 2011
Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I
Weixi Wang, Jeffry S Nyman, Koichiro Ono, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 15, 2018
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Douglas R Stewart, Bruce R Korf, Katherine L Nathanson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2022
Factors associated with the time to complete clinical exome sequencing in a pediatric patient population
Gabriella Lee, Linbo Yu, Carlos J Suarez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 5, 2018
Response to Hannah-Shmouni and Stratakis
Douglas R Stewart, Bruce R Korf, Katherine L Nathanson, et al.
American Journal of Medical Genetics. Part A
|
April 14, 2007
Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster
David A Stevenson, Steven B Bleyl, Teresa Maxwell, et al.
American Journal of Medical Genetics. Part A
|
March 31, 2012
Analysis of skeletal dysplasias in the Utah population
David A Stevenson, John C Carey, Janice L B Byrne, et al.
American Journal of Medical Genetics. Part A
|
April 10, 2014
Screening children with neurofibromatosis type 1 for autism spectrum disorder
Jade Tinker, Paul S Carbone, David Viskochil, et al.
Pediatrics
|
March 3, 2006
Clinical characteristics and natural history of Freeman-Sheldon syndrome
David A Stevenson, John C Carey, Janice Palumbos, et al.
Page
of 17