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1. A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Issue 1 (28th January 2018)

2. Disclosure of Genetic Research Results to Members of a Founder Population. Issue 6 (29th April 2014)

3. ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. Issue 2 (17th November 2017)

4. Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. Issue 8 (18th June 2022)

5. Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. Issue 20 (21st July 2019)

6. Exome-wide rare variant analysis in familial essential tremor. (January 2021)

7. Front Cover, Volume 40, Issue 10. Issue 10 (27th September 2019)

8. Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. Issue 2 (4th December 2018)

9. Matchmaker Exchange. (13th February 2018)

10. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Issue 10 (18th June 2019)