Category: Genetic

December 31, 2023

Genetics Corner: A New Case of Rubinstein-Taybi Syndrome with a Novel Variant in the CREBBP Gene Detected through Whole Exome Sequencing
October 31, 2023

A Newborn with Difficult Intubation Diagnosed with Treacher Collins Syndrome and Detection of a Novel Pathogenic Variant in TCOF1
February 28, 2023

Genetics Corner: HACD1-Associated Congenital Myopathy in an Infant of Chaldean Ethnicity.
January 31, 2023

Genetics Corner: Familial Duodenal Atresia Due to Feingold Syndrome
December 31, 2022

Genetics Corner: Mild Expression of COL7A1-Associated Epidermolysis Bullosa in a Mother and Child
October 31, 2022

Genetics Corner: Clinical Implementation and Improved Access of Whole-Genome Sequencing in the NICU: Learnings from a Virtual Educational Event
May 31, 2022

Clinical Pearl: A New Potential Biomarker for Sudden Infant Death Syndrome (SIDS): Butyrylcholinesterase
February 28, 2022

Abstracts from the California Association of Neonatologists Cool Topics in Neonatology 27th Annual Conference
October 31, 2020

The Genetics Corner: Hypophosphatasia
July 31, 2020

The Genetics Corner: Congenital Microcephaly and a Region of Homozygosity on Chromosome 1 that was not Reported on the Prenatal Chromosome Microarray
June 30, 2020

Kabuki Syndrome in a Newborn with a Complex Left Sided Cardiac Lesion and Persistent Hypoglycemia dueto Hyperinsulinism
May 31, 2020

The Genetics Corner: A Consultation for Neonatal Diabetes Mellitus Reveals Uniparental Disomy 6
December 31, 2019

Genetics Corner: Genetic Counseling and Family Screening after Prenatal Diagnosis Of Hypoplastic Left Heart Syndrome: Is It Warranted?
November 30, 2019

Genetics Corner: A Consultation for Wolf-Hirschhorn Syndrome
October 31, 2019

Genetics Corner: Translocation Down syndrome