Last Updated: 09/26/2026
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Found 17 publications
GliFHV mice: a tool to investigate GLI processing and localization.
Journal: Development (Cambridge, England)
Published: July 14, 2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 10, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Journal: Brain : a journal of neurology
Published: November 06, 2023
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Journal: American journal of human genetics
Published: August 06, 2023
Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
Journal: JAMA network open
Published: May 08, 2023
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations.
Journal: NPJ genomic medicine
Published: September 27, 2022
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Journal: Nature communications
Published: July 14, 2022
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 02, 2021
Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.
Journal: European journal of medical genetics
Published: June 13, 2019
Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency.
Journal: The Journal of pediatrics
Published: November 29, 2016
Secreted HHIP1 interacts with heparan sulfate and regulates Hedgehog ligand localization and function.
Journal: The Journal of cell biology
Published: June 10, 2015
Last Updated: 09/26/2026