Category: Genetic

September 30, 2021

Genetic Corner: Diaphragmatic Hernia in an Infant with a Type II Distal Deletion of 22q11.2 (LCR22E-F)
September 30, 2021

Fellows Column: Caloric Restricted Diets Anxiolytic Effect on Progeny
August 31, 2021

The Genetics Corner: A Mother and Child with Cleft lip and Palate Have an Atypical 1p36 Deletion that Disrupts KIF1B, a Cause of Autosomal Dominant Charcot-Marie-Tooth Disease, Type 2A1
May 31, 2021

The Genetics Corner: Avoiding the Need for Cardiac Transplant – Everolimus Induced Regression of a Cardiac Tumor in an Infant with Tuberous Sclerosis Complex (TSC) Type 2 with Updates on his Progress
April 30, 2021

The Genetics Corner: Pathogenic variants in DOCK6 mimic congenital viral infection in an SGA infant with VSD and intracranial calcifications
March 31, 2021

The Genetics Corner: The Positive Predictive Value of NIPT for 22q11 Deletion Syndrome Varies with the Indication
March 31, 2021

Medical Legal Forum: Case Debrief: J.S. v. The United States of America
February 28, 2021

Genetics Corner: An Infant with Amyoplasia Limited to the Upper Extremities
January 31, 2021

Genetics Corner: Trichothiodystrophy 1 Causes Neutropenia in an Infant with Congenital ichthyosis and Brittle Hair
December 31, 2020

Genetics Corner: Risk of Epilepsy in an Asymptomatic Infant with Prenatally Diagnosed Tuberous Sclerosis
December 31, 2020

Ethics in Whole Genome Sequencing
December 31, 2020

Fellow Column: Identification of a Solitary Posterior Cervical Cystic Hygroma: A Case-report
October 31, 2020

The Genetics Corner: Hypophosphatasia
October 31, 2020

Case Report: Extremely Premature Infant without Spontaneous Movements Born to a Mother following COVID-19 Infection
September 30, 2020

The Genetics Corner: DiGeorge Anomaly Associated with Diabetic Embryopathy in an Infant without a Deletion on Chromosome 22q11