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Journal of the American College of Cardiology
|
November 5, 2025
Placental Malperfusion Is Associated With Adverse Outcomes in Congenital Heart Disease and With Genetic Variants in Placental Developmental Pathways
Rebecca Josowitz, Stacy Woyciechowski, Tanaya Jadhav, et al.
European Journal of Medical Genetics
|
March 13, 2012
Ring chromosome 20
Robert D Daber, Laura K Conlin, Laura D Leonard, et al.
American Journal of Medical Genetics. Part A
|
January 27, 2010
Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20
Cheryl Descipio, Jennifer D Morrissette, Laura K Conlin, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2010
Update on "two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20"
Cheryl Descipio, Jennifer D Morrissette, Laura K Conlin, et al.
American Journal of Medical Genetics. Part A
|
March 5, 2015
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome
Christopher M Grochowski, Ramakrishnan Rajagopalan, Alexandra M Falsey, et al.
The Journal of Pediatrics
|
February 14, 2025
How Neonatologists Use Genetic Information
Katharine Press Callahan, Rebecca Mueller, Steven Joffe, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2008
Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals
Cheryl DeScipio, Nancy B Spinner, Maninder Kaur, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2003
Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9
Jennifer J D Morrissette, Ayala Laufer-Cahana, Livija Medne, et al.
HGG Advances
|
September 8, 2024
Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools
Ernest Keefer-Jacques, Nicolette Valente, Anastasia M Jacko, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2005
A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage
Jennifer J D Morrissette, Livija Medne, Tyrone Bentley, et al.
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of 14
Search research articles
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Showing results (51-60 of 140) with videos related to
Sort By:
Page
of 14
Journal of the American College of Cardiology
|
November 5, 2025
Placental Malperfusion Is Associated With Adverse Outcomes in Congenital Heart Disease and With Genetic Variants in Placental Developmental Pathways
Rebecca Josowitz, Stacy Woyciechowski, Tanaya Jadhav, et al.
European Journal of Medical Genetics
|
March 13, 2012
Ring chromosome 20
Robert D Daber, Laura K Conlin, Laura D Leonard, et al.
American Journal of Medical Genetics. Part A
|
January 27, 2010
Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20
Cheryl Descipio, Jennifer D Morrissette, Laura K Conlin, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2010
Update on "two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20"
Cheryl Descipio, Jennifer D Morrissette, Laura K Conlin, et al.
American Journal of Medical Genetics. Part A
|
March 5, 2015
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome
Christopher M Grochowski, Ramakrishnan Rajagopalan, Alexandra M Falsey, et al.
The Journal of Pediatrics
|
February 14, 2025
How Neonatologists Use Genetic Information
Katharine Press Callahan, Rebecca Mueller, Steven Joffe, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2008
Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals
Cheryl DeScipio, Nancy B Spinner, Maninder Kaur, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2003
Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9
Jennifer J D Morrissette, Ayala Laufer-Cahana, Livija Medne, et al.
HGG Advances
|
September 8, 2024
Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools
Ernest Keefer-Jacques, Nicolette Valente, Anastasia M Jacko, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2005
A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage
Jennifer J D Morrissette, Livija Medne, Tyrone Bentley, et al.
Page
of 14