Alina T. Midro

Bialystok, PD, Poland

Last Updated: 09/26/2026

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Found 23 publications

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study.

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study.

Journal: The application of clinical genetics

Published: April 23, 2021

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

Journal: American journal of medical genetics. Part A

Published: August 28, 2020

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.

Journal: American journal of medical genetics. Part A

Published: March 04, 2020

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.

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.

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

Chromosome (re)positioning in spermatozoa of fathers and sons - carriers of reciprocal chromosome translocation (RCT).

Chromosome (re)positioning in spermatozoa of fathers and sons - carriers of reciprocal chromosome translocation (RCT).

Journal: BMC medical genomics

Published: July 30, 2018

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.

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.

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.

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

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Journal: Human mutation

Published: December 17, 2015

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.

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

Systemic sclerosis. Part 2. Epigenetic factors in the pathogenesis of clinical manifestations

Systemic sclerosis. Part 2. Epigenetic factors in the pathogenesis of clinical manifestations

Journal: Przeglad lekarski

Published: June 17, 2015

Showing 1-12 of 23

Last Updated: 09/26/2026