Last Updated: 09/26/2026
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Found 17 publications
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 13, 2025
The distinctive P450 oxidoreductase (PORD) urinary steroid metabolome in the first week of life: Report of three cases with severe disorder.
Journal: The Journal of steroid biochemistry and molecular biology
Published: December 01, 2024
The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
Journal: American journal of medical genetics. Part A
Published: March 09, 2020
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Journal: American journal of human genetics
Published: August 06, 2018
In memory of Murray Feingold (1930-2015).
Journal: American journal of medical genetics. Part A
Published: April 07, 2016
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.
Journal: American journal of medical genetics. Part A
Published: June 04, 2015
A specific mutation in TBL1XR1 causes Pierpont syndrome.
Journal: Journal of medical genetics
Published: May 01, 2015
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Journal: Clinical immunology (Orlando, Fla.)
Published: April 03, 2015
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Journal: American journal of medical genetics. Part A
Published: January 17, 2014
Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.
Journal: American journal of medical genetics. Part A
Published: October 17, 2013
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
Journal: The Journal of clinical endocrinology and metabolism
Published: February 01, 2013
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Journal: American journal of medical genetics. Part A
Published: October 01, 2012
Last Updated: 09/26/2026