Barbara Panasiuk
Bialystok, PD 15089, Poland
Last Updated: 09/26/2026
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Found 14 publications
Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.
Journal: American journal of medical genetics. Part A
Published: September 06, 2019
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome.
Journal: Clinical genetics
Published: September 24, 2018
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Journal: American journal of medical genetics. Part A
Published: August 10, 2017
Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.
Journal: Molecular cytogenetics
Published: April 12, 2017
Clonal chromosomal aberrations in Philadelphia negative cells such as monosomy 7 and trisomy 8 may persist for years with no impact on the long term outcome in patients with chronic myeloid leukemia.
Journal: Cancer genetics
Published: December 21, 2016
Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.
Journal: Journal of assisted reproduction and genetics
Published: August 27, 2015
Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.
Journal: American journal of medical genetics. Part A
Published: March 11, 2015
Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).
Journal: Journal of human genetics
Published: May 06, 2014
Probability rate of unbalanced offspring at birth and risk of unfavorable pregnancy outcomes in families of carriers of chromosomal reciprocal translocations involving chromosome 7
Journal: Ginekologia polska
Published: February 11, 2014
Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male.
Journal: Molecular cytogenetics
Published: December 05, 2013
Last Updated: 09/26/2026