Search research articles
Contact Us
Filters
Showing results (11-20 of 29) with videos related to
Page
of 3
Sort By:
The Journal of Pediatrics
|
April 17, 2022
The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review
K Taylor Wild, Erica Schindewolf, Holly L Hedrick, et al.
American Journal of Medical Genetics. Part A
|
February 25, 2026
Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency
Gonench Kilich, Tanaya Jadhav, Kelly Maurer, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2018
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome
Erica Schindewolf, Nahla Khalek, Mark P Johnson, et al.
Prenatal Diagnosis
|
April 9, 2024
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation
Elizabeth Goldmuntz, Anne S Bassett, Erik Boot, et al.
American Journal of Medical Genetics. Part A
|
January 9, 2025
Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia
Natalie Burrill, Christina Paidas Teefey, Renee Wright, et al.
Prenatal Diagnosis
|
January 1, 2025
Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies
Natalie Burrill, Erica Schindewolf, Lisa Pilchman, et al.
Molecular Genetics & Genomic Medicine
|
February 15, 2019
Molecular diagnosis of somatic overgrowth conditions: A single-center experience
Emilie Lalonde, Jessica Ebrahimzadeh, Keith Rafferty, et al.
American Journal of Medical Genetics. Part A
|
March 6, 2020
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome
Amanda Barone Pritchard, Stanley M Kanai, Bryan Krock, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2020
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm
Sarah E Sheppard, Anna Smith, Katheryn Grand, et al.
Ejhaem
|
August 27, 2025
An Unusual Cause of Hexokinase 1 Deficiency-Case Report
Gonench Kilich, Kelly Maurer, Tanaya Jadhav, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 29) with videos related to
Sort By:
Page
of 3
The Journal of Pediatrics
|
April 17, 2022
The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review
K Taylor Wild, Erica Schindewolf, Holly L Hedrick, et al.
American Journal of Medical Genetics. Part A
|
February 25, 2026
Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency
Gonench Kilich, Tanaya Jadhav, Kelly Maurer, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2018
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome
Erica Schindewolf, Nahla Khalek, Mark P Johnson, et al.
Prenatal Diagnosis
|
April 9, 2024
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation
Elizabeth Goldmuntz, Anne S Bassett, Erik Boot, et al.
American Journal of Medical Genetics. Part A
|
January 9, 2025
Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia
Natalie Burrill, Christina Paidas Teefey, Renee Wright, et al.
Prenatal Diagnosis
|
January 1, 2025
Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies
Natalie Burrill, Erica Schindewolf, Lisa Pilchman, et al.
Molecular Genetics & Genomic Medicine
|
February 15, 2019
Molecular diagnosis of somatic overgrowth conditions: A single-center experience
Emilie Lalonde, Jessica Ebrahimzadeh, Keith Rafferty, et al.
American Journal of Medical Genetics. Part A
|
March 6, 2020
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome
Amanda Barone Pritchard, Stanley M Kanai, Bryan Krock, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2020
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm
Sarah E Sheppard, Anna Smith, Katheryn Grand, et al.
Ejhaem
|
August 27, 2025
An Unusual Cause of Hexokinase 1 Deficiency-Case Report
Gonench Kilich, Kelly Maurer, Tanaya Jadhav, et al.
Page
of 3