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American Journal of Medical Genetics. Part A
|
September 19, 2009
Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines
Alasdair G W Hunter, Julianne S Collins, Matthew A Deardorff, et al.
European Journal of Human Genetics : EJHG
|
May 1, 2014
Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia
Dong Li, David R Weber, Matthew A Deardorff, et al.
The Journal of Pediatrics
|
June 14, 2006
The value of the metabolic autopsy in the pediatric hospital setting
Linda M Ernst, Neal Sondheimer, Matthew A Deardorff, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2012
Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome
Mariko Nakanishi, Matthew A Deardorff, Dinah Clark, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
April 30, 2016
NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity
Maninder Kaur, Devanshi Mehta, Sarah E Noon, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
The incidence of thrombocytopenia in children with Cornelia de Lange syndrome
Michele P Lambert, Laird G Jackson, Dinah Clark, et al.
Human Molecular Genetics
|
February 8, 2011
Neutral mitochondrial heteroplasmy and the influence of aging
Neal Sondheimer, Catherine E Glatz, Jack E Tirone, et al.
Frontiers in Genetics
|
July 23, 2025
Correction: Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing
Simran Maggo, Yachen Pan, Dejerianne Ostrow, et al.
Frontiers in Genetics
|
June 13, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing
Simran Maggo, Yachen Pan, Dejerianne Ostrow, et al.
Journal of Medical Genetics
|
May 21, 2020
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
Samuel W Baker, Kelly A Duffy, Jennifer Richards-Yutz, et al.
Page
of 13
Search research articles
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Showing results (11-20 of 128) with videos related to
Sort By:
Page
of 13
American Journal of Medical Genetics. Part A
|
September 19, 2009
Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines
Alasdair G W Hunter, Julianne S Collins, Matthew A Deardorff, et al.
European Journal of Human Genetics : EJHG
|
May 1, 2014
Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia
Dong Li, David R Weber, Matthew A Deardorff, et al.
The Journal of Pediatrics
|
June 14, 2006
The value of the metabolic autopsy in the pediatric hospital setting
Linda M Ernst, Neal Sondheimer, Matthew A Deardorff, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2012
Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome
Mariko Nakanishi, Matthew A Deardorff, Dinah Clark, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
April 30, 2016
NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity
Maninder Kaur, Devanshi Mehta, Sarah E Noon, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
The incidence of thrombocytopenia in children with Cornelia de Lange syndrome
Michele P Lambert, Laird G Jackson, Dinah Clark, et al.
Human Molecular Genetics
|
February 8, 2011
Neutral mitochondrial heteroplasmy and the influence of aging
Neal Sondheimer, Catherine E Glatz, Jack E Tirone, et al.
Frontiers in Genetics
|
July 23, 2025
Correction: Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing
Simran Maggo, Yachen Pan, Dejerianne Ostrow, et al.
Frontiers in Genetics
|
June 13, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing
Simran Maggo, Yachen Pan, Dejerianne Ostrow, et al.
Journal of Medical Genetics
|
May 21, 2020
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
Samuel W Baker, Kelly A Duffy, Jennifer Richards-Yutz, et al.
Page
of 13