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Pediatric Quality & Safety
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August 9, 2020
The Road to Transfusion-free Craniosynostosis Repair in Children Less Than 24 Months Old: A Quality Improvement Initiative
Amy B Beethe, Rachel A Spitznagel, Jane A Kugler, et al.
Stem Cell Research
|
August 16, 2019
Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder
Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, et al.
Stem Cell Research
|
January 7, 2026
Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1
Kiymet Bozaoglu, Sarah Massie, Friederike Elise Irion, et al.
Clinical Genetics
|
November 26, 2009
Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools
M B Delatycki, M Wolthuizen, V Collins, et al.
European Journal of Human Genetics : EJHG
|
September 26, 2001
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
A B West, A Zimprich, P J Lockhart, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2009
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines
E R Benjamin, J J Flanagan, A Schilling, et al.
Genome Biology
|
September 16, 2011
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
Katherine R Smith, Catherine J Bromhead, Michael S Hildebrand, et al.
Neurology
|
August 28, 2020
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy
Wei Shern Lee, Sarah E M Stephenson, Kate Pope, et al.
Journal of Neuropathology and Experimental Neurology
|
November 18, 2009
Degeneration in different parkinsonian syndromes relates to astrocyte type and astrocyte protein expression
Yun Ju C Song, Glenda M Halliday, Janice L Holton, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2017
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
Ashley P L Marsh, Patrick Yap, Tiong Tan, et al.
Page
of 46
Search research articles
Search
Showing results (321-330 of 454) with videos related to
Sort By:
Page
of 46
Pediatric Quality & Safety
|
August 9, 2020
The Road to Transfusion-free Craniosynostosis Repair in Children Less Than 24 Months Old: A Quality Improvement Initiative
Amy B Beethe, Rachel A Spitznagel, Jane A Kugler, et al.
Stem Cell Research
|
August 16, 2019
Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder
Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, et al.
Stem Cell Research
|
January 7, 2026
Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1
Kiymet Bozaoglu, Sarah Massie, Friederike Elise Irion, et al.
Clinical Genetics
|
November 26, 2009
Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools
M B Delatycki, M Wolthuizen, V Collins, et al.
European Journal of Human Genetics : EJHG
|
September 26, 2001
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
A B West, A Zimprich, P J Lockhart, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2009
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines
E R Benjamin, J J Flanagan, A Schilling, et al.
Genome Biology
|
September 16, 2011
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
Katherine R Smith, Catherine J Bromhead, Michael S Hildebrand, et al.
Neurology
|
August 28, 2020
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy
Wei Shern Lee, Sarah E M Stephenson, Kate Pope, et al.
Journal of Neuropathology and Experimental Neurology
|
November 18, 2009
Degeneration in different parkinsonian syndromes relates to astrocyte type and astrocyte protein expression
Yun Ju C Song, Glenda M Halliday, Janice L Holton, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2017
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
Ashley P L Marsh, Patrick Yap, Tiong Tan, et al.
Page
of 46