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List of works by Heather M Byers

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

scientific article published on 27 February 2018

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability

scientific article published on 07 May 2018

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.

scientific article published on 12 October 2016

Discordant sex between fetal screening and postnatal phenotype requires evaluation

scientific article published on 21 November 2018

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant.

scientific article published on April 2016

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions

scientific article published on 25 April 2018

Factor VIII and vWF deficiency in STT3A-CDG

scientific article published on 30 January 2019

Increasing the Participation of Pregnant Women in Clinical Trials

scientific article published on 01 November 2018

Medical genetics education in the midst of the COVID-19 pandemic: Shared resources

scientific article published on 23 April 2020

Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis

scientific article published on 27 September 2018

Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population ⬇️

scientific article published on September 27, 2012

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency

scientific article

Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn ⬇️

scientific article published on December 21, 2011

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