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American Journal of Medical Genetics. Part A
|
March 22, 2020
NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus
Alyssa Ritter, Petra Werner, Brande Latney, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2010
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey
Sarika Rohatgi, Dinah Clark, Antonie D Kline, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 21, 2016
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing
Elizabeth J Bhoj, Zhenming Yu, Qiaoning Guan, et al.
Journal of Human Immunity
|
February 26, 2026
Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus
Aiswarya Sethumadhavan, Charles Mariasoosai, Natsuko Yamakawa, et al.
American Journal of Medical Genetics. Part A
|
January 7, 2023
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome
Dena R Matalon, Elizabeth J Bhoj, Dong Li, et al.
American Journal of Medical Genetics. Part A
|
January 12, 2013
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome
Brittney Murray, Rohan Wagle, Nuria Amat-Alarcon, et al.
Ophthalmology
|
October 21, 2022
Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium
Christian J Sanfilippo, Michael Javaheri, Sheryl Handler, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2012
Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies
Dinah M Clark, Ilana Sherer, Matthew A Deardorff, et al.
Journal of Structural Biology
|
December 14, 2020
Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders
Jeremy D Osko, Nicholas J Porter, Christophe Decroos, et al.
American Journal of Medical Genetics. Part A
|
May 7, 2016
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder
John M Graham, Neda Zadeh, Melissa Kelley, et al.
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Search research articles
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Showing results (31-40 of 128) with videos related to
Sort By:
Page
of 13
American Journal of Medical Genetics. Part A
|
March 22, 2020
NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus
Alyssa Ritter, Petra Werner, Brande Latney, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2010
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey
Sarika Rohatgi, Dinah Clark, Antonie D Kline, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 21, 2016
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing
Elizabeth J Bhoj, Zhenming Yu, Qiaoning Guan, et al.
Journal of Human Immunity
|
February 26, 2026
Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus
Aiswarya Sethumadhavan, Charles Mariasoosai, Natsuko Yamakawa, et al.
American Journal of Medical Genetics. Part A
|
January 7, 2023
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome
Dena R Matalon, Elizabeth J Bhoj, Dong Li, et al.
American Journal of Medical Genetics. Part A
|
January 12, 2013
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome
Brittney Murray, Rohan Wagle, Nuria Amat-Alarcon, et al.
Ophthalmology
|
October 21, 2022
Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium
Christian J Sanfilippo, Michael Javaheri, Sheryl Handler, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2012
Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies
Dinah M Clark, Ilana Sherer, Matthew A Deardorff, et al.
Journal of Structural Biology
|
December 14, 2020
Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders
Jeremy D Osko, Nicholas J Porter, Christophe Decroos, et al.
American Journal of Medical Genetics. Part A
|
May 7, 2016
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder
John M Graham, Neda Zadeh, Melissa Kelley, et al.
Page
of 13