David Zocche
Oxford, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 13 publications
Which first? Surgery or biologic therapy for ileocolic Crohn's disease in the real world.
Journal: Expert review of gastroenterology & hepatology
Published: June 11, 2025
Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants With PRS Deficiency.
Journal: American journal of medical genetics. Part A
Published: April 22, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Journal: American journal of human genetics
Published: April 08, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Journal: medRxiv : the preprint server for health sciences
Published: March 17, 2025
Novel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion.
Journal: Molecular syndromology
Published: November 11, 2024
CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.
Journal: American journal of medical genetics. Part A
Published: September 23, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.
Journal: medRxiv : the preprint server for health sciences
Published: June 10, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Journal: HGG advances
Published: May 29, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 22, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Journal: Nature
Published: April 07, 2024
Lethal phenotypes in Mendelian disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 05, 2024
Lethal phenotypes in Mendelian disorders.
Journal: medRxiv : the preprint server for health sciences
Published: January 23, 2024
Last Updated: 09/26/2026