Last Updated: 09/26/2026
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Found 26 publications
A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia.
Journal: Clinical dysmorphology
Published: May 28, 2026
Primrose syndrome with a novel ZBTB20 variant with congenital glaucoma and hydrocephalus.
Journal: Clinical dysmorphology
Published: October 08, 2025
Novel variant in OTOG gene in consanguineous family with sensorineural hearing loss.
Journal: BMJ case reports
Published: May 19, 2025
Assessing the Utilization of Electronic Consultations in Genetics: Seven-Year Retrospective Study.
Journal: JMIR formative research
Published: June 07, 2024
Developing a Prospective Gestational Lyme Disease Study.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: January 02, 2024
KCNK4-related channelopathy causing a neurodevelopmental syndrome.
Journal: BMJ case reports
Published: November 06, 2023
Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay.
Journal: Clinical case reports
Published: September 21, 2021
Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum.
Journal: Case reports in perinatal medicine
Published: August 13, 2021
Characteristics of Orofacial Clefting in Hawai'i.
Journal: Hawai'i journal of health & social welfare
Published: August 30, 2019
Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant.
Journal: Clinical dysmorphology
Published: March 29, 2019
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
Journal: Cilia
Published: February 03, 2017
Last Updated: 09/26/2026