Joanna Kosinska
Pawinskiego 3c Str
Warsaw, MZ 02106, Poland
Warsaw, MZ 02106, Poland
Last Updated: 09/26/2026
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Found 64 publications
A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.
Journal: Human molecular genetics
Published: October 07, 2022
Destabilization of mutated human PUS3 protein causes intellectual disability.
Journal: Human mutation
Published: February 21, 2022
Authors' response to Dr Finsterer's comment "Exclude differentials before diagnosing SARS-CoV-2-associated acute hemorrhagic necrotizing encephalitis" (THEIJID-D-22-00008).
Journal: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases
Published: February 07, 2022
WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.
Journal: Genes
Published: November 09, 2021
The case of fatal acute hemorrhagic necrotizing encephalitis in a two-month-old boy with Covid-19.
Journal: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases
Published: October 11, 2021
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Journal: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
Published: September 15, 2021
FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.
Journal: Molecular genetics & genomic medicine
Published: July 09, 2021
Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant.
Journal: Frontiers in genetics
Published: July 02, 2021
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.
Journal: Diagnostics (Basel, Switzerland)
Published: June 06, 2021
Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
Journal: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
Published: May 14, 2021
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
Journal: Journal of mother and child
Published: April 30, 2021
Last Updated: 09/26/2026