Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 82 publications
Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene.
Journal: International journal of molecular sciences
Published: October 08, 2024
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Journal: American journal of human genetics
Published: August 27, 2024
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 30, 2024
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.
Journal: American journal of medical genetics. Part A
Published: June 03, 2024
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.
Journal: Rare (Amsterdam, Netherlands)
Published: May 21, 2024
Expanded carrier screening for inherited genetic disease using exome and genome sequencing.
Journal: Journal of genetic counseling
Published: April 02, 2024
FGF12 copy number variant associated with epileptic encephalopathy.
Journal: Clinical genetics
Published: April 02, 2024
Nuclease-free precise genome editing corrects MECP2 mutations associated with Rett syndrome.
Journal: Frontiers in genome editing
Published: November 29, 2023
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Journal: Cell death & disease
Published: July 14, 2023
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Journal: Clinical genetics
Published: June 15, 2023
Last Updated: 09/26/2026