Last Updated: 09/26/2026
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Found 14 publications
Abdominal Compression Syndromes in the Hypermobile Ehlers-Danlos Syndrome.
Journal: American journal of medical genetics. Part A
Published: April 02, 2025
Shared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.
Journal: PloS one
Published: February 26, 2025
Hypermobile Ehlers-Danlos Syndrome: Cerebrovascular, Autonomic and Neuropathic Features.
Journal: American journal of medicine open
Published: November 14, 2024
Correction to: A contiguous microdeletion syndrome at Xp22.13 with non-obstructive azoospermia and congenital cataracts.
Journal: Journal of assisted reproduction and genetics
Published: June 19, 2021
Obstetrics, genetics, and litigation.
Journal: Acta obstetricia et gynecologica Scandinavica
Published: November 05, 2020
A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts.
Journal: Journal of assisted reproduction and genetics
Published: October 30, 2019
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.
Journal: Clinical genetics
Published: May 08, 2019
Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.
Journal: Prenatal diagnosis
Published: August 30, 2017
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.
Journal: Journal of pediatric gastroenterology and nutrition
Published: April 20, 2017
The "New Genetics" in Clinical Practice: A Brief Primer.
Journal: Journal of the American Board of Family Medicine : JABFM
Published: September 28, 2016
Last Updated: 09/26/2026