Sort   by:  
 Page size 
UnknownReanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Not available
S-EPMC11934095 | biostudies-literature
UnknownLoss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Not available
S-EPMC11648989 | biostudies-literature
UnknownA Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Not available
S-EPMC5294886 | biostudies-literature
UnknownELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Not available
S-EPMC12260708 | biostudies-literature
UnknownFamily genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
Not available
S-EPMC8207526 | biostudies-literature
UnknownDe novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Not available
S-EPMC11533975 | biostudies-literature
UnknownJoint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Not available
S-EPMC12328722 | biostudies-literature
UnknownIRF2BPL Is Associated with Neurological Phenotypes.
Not available
S-EPMC6081494 | biostudies-literature
UnknownVariants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Not available
S-EPMC8354857 | biostudies-literature
UnknownBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
Sort   by:  
 Page size