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American Journal of Medical Genetics. Part A
|
January 19, 2008
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia
Smita M Purandare, Roberto Mendoza-Londono, Svetlana A Yatsenko, et al.
American Journal of Medical Genetics. Part A
|
March 5, 2015
FBN1 contributing to familial congenital diaphragmatic hernia
Tyler F Beck, Philippe M Campeau, Shalini N Jhangiani, et al.
Developmental Biology
|
September 24, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models
Andrés Hernández-García, Bum Jun Kim, David Chitayat, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
April 28, 2021
Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate
Maria Luisa Navarro Sanchez, Renata H Benjamin, Laura E Mitchell, et al.
Human Molecular Genetics
|
December 11, 2012
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice
Tyler F Beck, Danielle Veenma, Oleg A Shchelochkov, et al.
American Journal of Medical Genetics. Part A
|
April 14, 2007
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome
Silke Schlaubitz, Svetlana A Yatsenko, Laurie D Smith, et al.
European Journal of Human Genetics : EJHG
|
December 15, 2010
Phenotypic manifestations of copy number variation in chromosome 16p13.11
Sandesh C Sreenath Nagamani, Ayelet Erez, Patricia Bader, et al.
Birth Defects Research
|
July 18, 2019
Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries
Renata H Benjamin, Xiao Yu, Maria Luisa Navarro Sanchez, et al.
Journal of Pediatric Urology
|
December 7, 2020
Patterns of co-occurring birth defects among infants with hypospadias
Katherine L Ludorf, Renata H Benjamin, Maria Luisa Navarro Sanchez, et al.
Journal of Medical Genetics
|
August 24, 2016
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO
Daryl A Scott, Andres Hernandez-Garcia, Mahshid S Azamian, et al.
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of 13
Search research articles
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Showing results (61-70 of 128) with videos related to
Sort By:
Page
of 13
American Journal of Medical Genetics. Part A
|
January 19, 2008
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia
Smita M Purandare, Roberto Mendoza-Londono, Svetlana A Yatsenko, et al.
American Journal of Medical Genetics. Part A
|
March 5, 2015
FBN1 contributing to familial congenital diaphragmatic hernia
Tyler F Beck, Philippe M Campeau, Shalini N Jhangiani, et al.
Developmental Biology
|
September 24, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models
Andrés Hernández-García, Bum Jun Kim, David Chitayat, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
April 28, 2021
Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate
Maria Luisa Navarro Sanchez, Renata H Benjamin, Laura E Mitchell, et al.
Human Molecular Genetics
|
December 11, 2012
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice
Tyler F Beck, Danielle Veenma, Oleg A Shchelochkov, et al.
American Journal of Medical Genetics. Part A
|
April 14, 2007
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome
Silke Schlaubitz, Svetlana A Yatsenko, Laurie D Smith, et al.
European Journal of Human Genetics : EJHG
|
December 15, 2010
Phenotypic manifestations of copy number variation in chromosome 16p13.11
Sandesh C Sreenath Nagamani, Ayelet Erez, Patricia Bader, et al.
Birth Defects Research
|
July 18, 2019
Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries
Renata H Benjamin, Xiao Yu, Maria Luisa Navarro Sanchez, et al.
Journal of Pediatric Urology
|
December 7, 2020
Patterns of co-occurring birth defects among infants with hypospadias
Katherine L Ludorf, Renata H Benjamin, Maria Luisa Navarro Sanchez, et al.
Journal of Medical Genetics
|
August 24, 2016
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO
Daryl A Scott, Andres Hernandez-Garcia, Mahshid S Azamian, et al.
Page
of 13