P. Jakiel

Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance

M. Borowiec, W. Młynarski, A. Zmysłowska, 2020, Genes.

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

M. Borowiec, A. Zmysłowska, K. Antosik, 2021, Endocrine.

Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.

M. Borowiec, M. Pietrusiński, K. Antosik, 2020, European journal of obstetrics, gynecology, and reproductive biology.

Wolfram-like syndrome – another face of a rare disease in children

M. Borowiec, M. Myśliwiec, A. Zmysłowska, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

Next- Generation Sequencing Is An Effective Method For Diagnosing Patients With Different Forms Of Monogenic Diabetes.

M. Borowiec, I. Kowalska, W. Młynarski, 2021, Diabetes research and clinical practice.

Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families

M. Borowiec, A. Pastorczak, A. Zmysłowska, 2023, neurogenetics.

Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients

P. Jakiel, K. Gadzalska, S. Skoczylas, 2023, Journal of Diabetes & Metabolic Disorders.

Next- Generation Sequencing Is An Effective Method For Diagnosing Patients With Different Forms Of Monogenic Diabetes.

M. Borowiec, I. Kowalska, W. Młynarski, 2021, Diabetes research and clinical practice.

Transient Neonatal Diabetes Mellitus with an Unknown Cause in a 1-Month-Old Infant: A Case Report

P. Jarosz-Chobot, Sebastian Seget, P. Jakiel, 2024, Healthcare.