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American Journal of Medical Genetics. Part A
|
June 20, 2012
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases
Samantha A Schrier, Joann N Bodurtha, Barbara Burton, et al.
Neurology. Genetics
|
February 10, 2017
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i>
Rebecca C Ahrens-Nicklas, George K E Umanah, Neal Sondheimer, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2019
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA
Shanlee Davis, Meredith A Ware, Jordan Zeiger, et al.
Journal of Medical Genetics
|
November 8, 2015
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome
Jennifer M Kalish, Kara E Boodhansingh, Tricia R Bhatti, et al.
American Journal of Human Genetics
|
June 5, 2018
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
Yoshiro Suzuki, David Chitayat, Hirotake Sawada, et al.
Nucleic Acids Research
|
May 8, 2010
Genome-wide DNA methylation analysis in cohesin mutant human cell lines
Jinglan Liu, Zhe Zhang, Masashige Bando, et al.
Plos One
|
May 5, 2009
Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies
Bin Zhang, Jufang Chang, Ming Fu, et al.
NPJ Genomic Medicine
|
February 21, 2025
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort
Elan Hahn, Avinash V Dharmadhikari, Alexander L Markowitz, et al.
American Journal of Human Genetics
|
February 3, 2007
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
Matthew A Deardorff, Maninder Kaur, Dinah Yaeger, et al.
American Journal of Medical Genetics. Part A
|
March 28, 2013
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy
Jennifer M Kalish, Laura K Conlin, Sogol Mostoufi-Moab, et al.
Page
of 13
Search research articles
Search
Showing results (71-80 of 128) with videos related to
Sort By:
Page
of 13
American Journal of Medical Genetics. Part A
|
June 20, 2012
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases
Samantha A Schrier, Joann N Bodurtha, Barbara Burton, et al.
Neurology. Genetics
|
February 10, 2017
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i>
Rebecca C Ahrens-Nicklas, George K E Umanah, Neal Sondheimer, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2019
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA
Shanlee Davis, Meredith A Ware, Jordan Zeiger, et al.
Journal of Medical Genetics
|
November 8, 2015
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome
Jennifer M Kalish, Kara E Boodhansingh, Tricia R Bhatti, et al.
American Journal of Human Genetics
|
June 5, 2018
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
Yoshiro Suzuki, David Chitayat, Hirotake Sawada, et al.
Nucleic Acids Research
|
May 8, 2010
Genome-wide DNA methylation analysis in cohesin mutant human cell lines
Jinglan Liu, Zhe Zhang, Masashige Bando, et al.
Plos One
|
May 5, 2009
Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies
Bin Zhang, Jufang Chang, Ming Fu, et al.
NPJ Genomic Medicine
|
February 21, 2025
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort
Elan Hahn, Avinash V Dharmadhikari, Alexander L Markowitz, et al.
American Journal of Human Genetics
|
February 3, 2007
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
Matthew A Deardorff, Maninder Kaur, Dinah Yaeger, et al.
American Journal of Medical Genetics. Part A
|
March 28, 2013
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy
Jennifer M Kalish, Laura K Conlin, Sogol Mostoufi-Moab, et al.
Page
of 13