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Archives of Neurology
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December 17, 2009
Progressive myopathy with multiple symmetric lipomatosis
Nicola Brunetti-Pierri, Aziz Shaibani, Shulin Zhang, et al.
Bone
|
November 3, 2020
Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype
James L Shepherdson, Hongjun Zheng, Ina E Amarillo, et al.
Neurology. Clinical Practice
|
August 26, 2017
Adult-onset dystonia with marfanoid features
Scott A Norris, Anja Pogarcic, Matt Hicks, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
July 1, 2011
Early-onset hepatic fibrosis in lysinuric protein intolerance
Marwan Shinawi, Dennis J Dietzen, Frances V White, et al.
American Journal of Medical Genetics. Part A
|
May 15, 2009
The Xp contiguous deletion syndrome and autism
Marwan Shinawi, Ankita Patel, Prisana Panichkul, et al.
Skeletal Radiology
|
August 15, 2014
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met
Shannon G Farmakis, Marwan Shinawi, Michelle Miller-Thomas, et al.
The International Journal of Neuroscience
|
March 18, 2014
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene
Aziz Shaibani, Lee-Jun Wong, Victor Wei Zhang, et al.
Journal of Child Neurology
|
December 23, 2011
Acute intermittent porphyria: a diagnostic challenge
Elizabeth Anyaegbu, Michael Goodman, Sun-Young Ahn, et al.
American Journal of Medical Genetics. Part A
|
January 10, 2013
NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay
Hussam Al-Kateb, Joshua S Shimony, Marisa Vineyard, et al.
European Journal of Medical Genetics
|
August 19, 2019
Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes
Stephanie Q Zhang, Julie Fleischer, Hussam Al-Kateb, et al.
Page
of 17
Search research articles
Search
Showing results (31-40 of 170) with videos related to
Sort By:
Page
of 17
Archives of Neurology
|
December 17, 2009
Progressive myopathy with multiple symmetric lipomatosis
Nicola Brunetti-Pierri, Aziz Shaibani, Shulin Zhang, et al.
Bone
|
November 3, 2020
Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype
James L Shepherdson, Hongjun Zheng, Ina E Amarillo, et al.
Neurology. Clinical Practice
|
August 26, 2017
Adult-onset dystonia with marfanoid features
Scott A Norris, Anja Pogarcic, Matt Hicks, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
July 1, 2011
Early-onset hepatic fibrosis in lysinuric protein intolerance
Marwan Shinawi, Dennis J Dietzen, Frances V White, et al.
American Journal of Medical Genetics. Part A
|
May 15, 2009
The Xp contiguous deletion syndrome and autism
Marwan Shinawi, Ankita Patel, Prisana Panichkul, et al.
Skeletal Radiology
|
August 15, 2014
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met
Shannon G Farmakis, Marwan Shinawi, Michelle Miller-Thomas, et al.
The International Journal of Neuroscience
|
March 18, 2014
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene
Aziz Shaibani, Lee-Jun Wong, Victor Wei Zhang, et al.
Journal of Child Neurology
|
December 23, 2011
Acute intermittent porphyria: a diagnostic challenge
Elizabeth Anyaegbu, Michael Goodman, Sun-Young Ahn, et al.
American Journal of Medical Genetics. Part A
|
January 10, 2013
NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay
Hussam Al-Kateb, Joshua S Shimony, Marisa Vineyard, et al.
European Journal of Medical Genetics
|
August 19, 2019
Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes
Stephanie Q Zhang, Julie Fleischer, Hussam Al-Kateb, et al.
Page
of 17