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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
September 30, 2020
The Genetics Corner: DiGeorge Anomaly Associated with Diabetic Embryopathy in an Infant without a Deletion on Chromosome 22q11
September 30, 2020
Fellow Column: An Unbalanced Translocation Involving Partial Duplication of Chromosome 6 and Partial Deletion of Chromosome 10 in a Premature Infant with Tetralogy of Fallot
September 20, 2020
Williams-Beuren Syndrome Presenting as Pulmonary Edema with Pleural Effusion: A New Pulmonary Manifestation of Elastin Vasculopathy
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
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