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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
December 8, 2025
Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review
Maggie R Brand, Eva Vanbelleghem, Alison C Kay, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2003
A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13
John M Graham, Patricia Wheeler, Darci Tackels-Horne, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
June 30, 2015
Maternal periconceptional alcohol consumption and congenital heart defects
Yong Zhu, Paul A Romitti, Kristin M Caspers Conway, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2021
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies
Dena R Matalon, David A Stevenson, Elizabeth J Bhoj, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2012
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations
Polakit Teekakirikul, Dianna M Milewicz, David T Miller, et al.
Birth Defects Research
|
May 21, 2026
Potential Risk Factors for Total Anomalous Pulmonary Venous Return: National Birth Defects Prevention Study, 1997-2011 and the Birth Defects Study to Evaluate Pregnancy Exposures, 2014-2021
Eva M Williford, Jada M Scott, Jeffrey Dayton, et al.
European Journal of Medical Genetics
|
March 1, 2014
Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007
Vijaya Kancherla, Paul A Romitti, Lixian Sun, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype
Saumya S Jamuar, Hatice Duzkale, Neslihan Duzkale, et al.
Journal of the American Heart Association
|
July 31, 2024
Survival to Young Adulthood Among Individuals With Congenital Heart Defects and Genetic Syndromes: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being
Karrie F Downing, Angela E Lin, Wendy N Nembhard, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2018
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance
Kelly L Jones, Erin A McNamara, Mauro Longoni, et al.
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of 17
Search research articles
Search
Showing results (91-100 of 170) with videos related to
Sort By:
Page
of 17
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
December 8, 2025
Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review
Maggie R Brand, Eva Vanbelleghem, Alison C Kay, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2003
A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13
John M Graham, Patricia Wheeler, Darci Tackels-Horne, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
June 30, 2015
Maternal periconceptional alcohol consumption and congenital heart defects
Yong Zhu, Paul A Romitti, Kristin M Caspers Conway, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2021
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies
Dena R Matalon, David A Stevenson, Elizabeth J Bhoj, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2012
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations
Polakit Teekakirikul, Dianna M Milewicz, David T Miller, et al.
Birth Defects Research
|
May 21, 2026
Potential Risk Factors for Total Anomalous Pulmonary Venous Return: National Birth Defects Prevention Study, 1997-2011 and the Birth Defects Study to Evaluate Pregnancy Exposures, 2014-2021
Eva M Williford, Jada M Scott, Jeffrey Dayton, et al.
European Journal of Medical Genetics
|
March 1, 2014
Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007
Vijaya Kancherla, Paul A Romitti, Lixian Sun, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype
Saumya S Jamuar, Hatice Duzkale, Neslihan Duzkale, et al.
Journal of the American Heart Association
|
July 31, 2024
Survival to Young Adulthood Among Individuals With Congenital Heart Defects and Genetic Syndromes: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being
Karrie F Downing, Angela E Lin, Wendy N Nembhard, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2018
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance
Kelly L Jones, Erin A McNamara, Mauro Longoni, et al.
Page
of 17