Matteo Cassina

Padova, 35131, Italy

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 74 publications

Celocentesis: Current Evidence and Future Directions.

Celocentesis: Current Evidence and Future Directions.

Journal: Journal of clinical medicine
Published: January 30, 2026

Characterization of STRC Gene Conversions by Nanopore Sequencing.

Characterization of STRC Gene Conversions by Nanopore Sequencing.

Journal: Clinical chemistry
Published: October 13, 2025

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Journal: Breast (Edinburgh, Scotland)
Published: September 15, 2025

Hyperkinetic Movement Disorder in KARS1-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review.

Hyperkinetic Movement Disorder in KARS1-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review.

Journal: Neurology international
Published: June 28, 2025

Genome-wide association studies of binge eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

Genome-wide association studies of binge eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025

Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.

Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.

Journal: Endocrine connections
Published: April 28, 2025

Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.

Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: March 22, 2024

The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case-control study.

The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case-control study.

Journal: Journal of assisted reproduction and genetics
Published: November 16, 2023

Effects of maternal modafinil treatment on fetal development and neonatal growth parameters - a multicenter case series of the European Network of Teratology Information Services (ENTIS).

Effects of maternal modafinil treatment on fetal development and neonatal growth parameters - a multicenter case series of the European Network of Teratology Information Services (ENTIS).

Journal: Acta psychiatrica Scandinavica
Published: June 23, 2023

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.

Journal: Clinical genetics
Published: April 24, 2023

Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature.

Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature.

Journal: Genes
Published: February 28, 2023

Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up.

Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up.

Journal: Clinical case reports
Published: September 07, 2022
Showing 1-12 of 74

Last Updated: 09/26/2026