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American Journal of Human Genetics
|
August 27, 2013
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia
Whitney L Wooderchak-Donahue, Jamie McDonald, Brendan O'Fallon, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
June 17, 2014
Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1
Nandina Paria, Tae-Joon Cho, In Ho Choi, et al.
American Journal of Medical Genetics. Part A
|
July 15, 2026
SHOC2 Is a Novel Cause of Central Conducting Lymphatic Anomaly
Jessica C Ding, Benjamin A Sempowski, Lola Zerbib, et al.
Molecular Genetics & Genomic Medicine
|
December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype
Linda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.
American Journal of Medical Genetics. Part A
|
June 22, 2019
Costello syndrome: Clinical phenotype, genotype, and management guidelines
Karen W Gripp, Lindsey A Morse, Marni Axelrad, et al.
Plos One
|
January 28, 2014
Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1
Jirko Kühnisch, Jong Seto, Claudia Lange, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 7, 2015
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
Surabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, et al.
Journal of Pediatric Orthopedics
|
March 14, 2013
Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium
David A Stevenson, David Little, Linlea Armstrong, et al.
Plos Genetics
|
May 20, 2016
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer
Anne-Mette Hartung, Jeff Swensen, Inaki E Uriz, et al.
American Journal of Medical Genetics. Part A
|
April 25, 2017
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis
Jaishri O Blakeley, Annette Bakker, Anne Barker, et al.
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of 17
Search research articles
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Showing results (131-140 of 167) with videos related to
Sort By:
Page
of 17
American Journal of Human Genetics
|
August 27, 2013
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia
Whitney L Wooderchak-Donahue, Jamie McDonald, Brendan O'Fallon, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
June 17, 2014
Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1
Nandina Paria, Tae-Joon Cho, In Ho Choi, et al.
American Journal of Medical Genetics. Part A
|
July 15, 2026
SHOC2 Is a Novel Cause of Central Conducting Lymphatic Anomaly
Jessica C Ding, Benjamin A Sempowski, Lola Zerbib, et al.
Molecular Genetics & Genomic Medicine
|
December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype
Linda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.
American Journal of Medical Genetics. Part A
|
June 22, 2019
Costello syndrome: Clinical phenotype, genotype, and management guidelines
Karen W Gripp, Lindsey A Morse, Marni Axelrad, et al.
Plos One
|
January 28, 2014
Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1
Jirko Kühnisch, Jong Seto, Claudia Lange, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 7, 2015
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
Surabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, et al.
Journal of Pediatric Orthopedics
|
March 14, 2013
Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium
David A Stevenson, David Little, Linlea Armstrong, et al.
Plos Genetics
|
May 20, 2016
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer
Anne-Mette Hartung, Jeff Swensen, Inaki E Uriz, et al.
American Journal of Medical Genetics. Part A
|
April 25, 2017
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis
Jaishri O Blakeley, Annette Bakker, Anne Barker, et al.
Page
of 17