Last Updated: 09/26/2026
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Found 27 publications
X-linked congenital bilateral absence of the vas deferens: a truncating pathogenic variant in ADGRG2: case report, reproductive outcome, and literature review.
Journal: Journal of assisted reproduction and genetics
Published: January 01, 2026
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
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
Journal: Genetics in medicine open
Published: November 30, 2023
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
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
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Journal: European journal of human genetics : EJHG
Published: October 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Journal: Journal of human genetics
Published: July 15, 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
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 31, 2019
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 10, 2018
Last Updated: 09/26/2026