about
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.Teaching NeuroImages: The lentiform fork sign: An MRI pattern of metformin-associated encephalopathy.Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotypeClinical spectrum of STX1B-related epileptic disorders.A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravisDe novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphismsThree rare disease diagnoses in one patient through exome sequencing
P50
Q30847416-B6587574-957A-47CA-BD15-F24AAB464E01Q47140309-834F7A1F-6F20-4D9D-8584-16D7BF745150Q53375649-7F90A51E-66F7-4822-89C1-D30D8DCEDD1DQ57063726-170ED1C1-1551-4C5E-943D-BB6C377E9555Q64948892-80BBA599-DD44-49CA-9F13-7EC7B7FEB2F8Q90485521-273FF721-F69F-4BE1-9448-D7D33DC4FE0CQ91212090-599480AA-5C0B-4C18-A33A-A8784B313758Q92708306-81308E04-906D-4160-8367-D6DAE2A3A7D1
P50
description
researcher
@en
name
Charu Kaiwar
@en
type
label
Charu Kaiwar
@en
prefLabel
Charu Kaiwar
@en
P31
P496
0000-0002-0862-9538