Monika Gos

17a Kasprzaka Street
Warsaw, MZ 01211, Poland

Last Updated: 09/26/2026

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Found 37 publications

Floppy baby syndrome as the first presentation of HADDTS associated with CTBP1 mutation.

Floppy baby syndrome as the first presentation of HADDTS associated with CTBP1 mutation.

Journal: Folia neuropathologica

Published: September 07, 2026

Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability.

Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability.

Journal: Balkan journal of medical genetics : BJMG

Published: May 18, 2026

The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy.

The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy.

Journal: Journal of clinical medicine

Published: July 02, 2024

270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.

270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.

Journal: Neuromuscular disorders : NMD

Published: January 06, 2024

Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma-Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances.

Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma-Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances.

Journal: Genes

Published: October 29, 2023

COVID-19-related premature ovarian insufficiency: case report and literature review.

COVID-19-related premature ovarian insufficiency: case report and literature review.

Journal: Climacteric : the journal of the International Menopause Society

Published: August 30, 2023

Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel's Deformity with Unusual Associations.

Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel's Deformity with Unusual Associations.

Journal: Fetal diagnosis and therapy

Published: January 06, 2023

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Journal: European journal of human genetics : EJHG

Published: April 08, 2022

Newborn screening and gene therapy in SMA: Challenges related to vaccinations.

Newborn screening and gene therapy in SMA: Challenges related to vaccinations.

Journal: Frontiers in neurology

Published: March 06, 2022

Destabilization of mutated human PUS3 protein causes intellectual disability.

Destabilization of mutated human PUS3 protein causes intellectual disability.

Journal: Human mutation

Published: February 21, 2022

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Journal: Genes

Published: May 26, 2021

The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).

The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).

Journal: Journal of mother and child

Published: April 30, 2021

Showing 1-12 of 37

Last Updated: 09/26/2026