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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
May 31, 2022
Clinical Pearl: A New Potential Biomarker for Sudden Infant Death Syndrome (SIDS): Butyrylcholinesterase
October 31, 2020
The Genetics Corner: Hypophosphatasia
November 30, 2019
Genetics Corner: A Consultation for Wolf-Hirschhorn Syndrome
May 31, 2019
The Genetics Corner: A Consultation for Multiple Congenital Anomalies
April 30, 2019
The Genetics Corner: A Genetics Consultation for Agenesis Cutis Coggenita and Methimazole Exposure
April 30, 2019
Cobalamin-C Methylmalonic Acidemia and Homocystinuria in Neonate Presenting as Persistent Pulmonary Hypertension Requiring Extracorporeal Membrane Oxygenation
March 31, 2019
Book Review: Genetic Consultations in the Newborn
March 31, 2019
The Genetics Coner: A Genetics Evaluation for Chronic Diarrhea that Revealed Incest
February 28, 2019
The Genetics Corner: A Genetics Consultation for Agenesis of the Corpus Callosum and Poor Feeding
January 31, 2019
The Genetics Corner: A Genetics Consultation for Congenital Syphilis