Last Updated: 09/26/2026
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Found 25 publications
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Journal: Molecular genetics and metabolism
Published: April 02, 2024
Genetic Causes of Vascular Malformations and Common Signaling Pathways Involved in Their Formation.
Journal: Dermatologic clinics
Published: October 15, 2022
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.
Journal: Clinical dysmorphology
Published: August 30, 2021
Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: June 09, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Journal: Brain : a journal of neurology
Published: May 25, 2020
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Journal: Science advances
Published: May 21, 2020
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.
Journal: Cells
Published: May 09, 2020
Redefining the Etiologic Landscape of Cerebellar Malformations.
Journal: American journal of human genetics
Published: June 03, 2019
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Journal: Clinical epigenetics
Published: February 06, 2019
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
Journal: Clinical dysmorphology
Published: December 04, 2018
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Journal: Human mutation
Published: November 30, 2018
Last Updated: 09/26/2026