Tomaszewska, Agnieszka Sobczyńska: search on Z-Library

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1

The analysis of clinical course of chronic pancreatitis related to R122C PRSS1 mutation in children in comparison with R122H PRSS1 mutation

Wejnarska, Karolina, Kujko, Aleksandra, Kolodziejczyk, Elwira, Grabarczyk, Alicja, Wertheim-Tysarowska, Katarzyna, Sobczyńska-Tomaszewska, Agnieszka, Bal, Jerzy, Rygiel, Agnieszka Magdalena, Oracz, Gr

Journal:

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

2

Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation

Wawrzycki, Bartłomiej, Pietrzak, Aldona, Chodorowska, Grażyna, Filip, Agata A., Petit, Veronique, Rudnicka, Lidia, Dybiec, Ewa, Rakowska, Adriana, Sobczyńska-Tomaszewska, Agnieszka, Kanitakis, Jean

Journal:

Advances in Dermatology and Allergology

Year:

2018

Language:

english

File:

PDF, 394 KB

english, 2018

3

The COL7A1 mutation database

Katarzyna Wertheim-Tysarowska, Agnieszka Sobczyńska-Tomaszewska, Cezary Kowalewski, Michał Skroński, Grzegorz Święćkowski, Anna Kutkowska-Kaźmierczak, Katarzyna Woźniak, Jerzy Bal

Journal:

Year:

2012

Language:

english

File:

PDF, 208 KB

english, 2012

4

Mild CFTR mutations and genetic predisposition to lactase persistence in cystic fibrosis

Mądry, Edyta, Fidler, Ewa, Sobczyńska-Tomaszewska, Agnieszka, Lisowska, Aleksandra, Krzyżanowska, Patrycja, Pogorzelski, Andrzej, Minarowski, Łukasz, Oralewska, Beata, Mojs, Ewa, Sapiejka, Ewa

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 233 KB

english, 2011

5

Novel de Novo Large Deletion in Cystic Fibrosis Transmembrane Conductance Regulator Gene Results in a Severe Cystic Fibrosis Phenotype

Aleksandra Norek, Marta Stremska, Agnieszka Sobczyńska-Tomaszewska, Katarzyna Wertheim-Tysarowska, Hanna Dmeńska, Marta Jurek

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 294 KB

english, 2011

6

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Sobczyńska-Tomaszewska, Agnieszka, Ołtarzewski, Mariusz, Czerska, Kamila, Wertheim-Tysarowska, Katarzyna, Sands, Dorota, Walkowiak, Jarosław, Bal, Jerzy, Mazurczak, Tadeusz

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 325 KB

english, 2012

7

Badanie przesiewowe noworodków w kierunku mukowiscydozy w Polsce

Sands, Dorota, Zybert, Katarzyna, Ołtarzewski, Mariusz, Sobczyńska-Tomaszewska, Agnieszka, Nowakowska, Anna, Milanowski, Andrzej

Journal:

Pediatria Polska

Year:

2008

Language:

polish

File:

PDF, 234 KB

polish, 2008

8

Hipolaktazja typu dorosłych – od genu do białka

Fidler, Ewa, Sobczyńska-Tomaszewska, Agnieszka, Walkowiak, Jarosław

Journal:

Pediatria Polska

Year:

2010

Language:

polish

File:

PDF, 222 KB

polish, 2010

9

The clinical course of hereditary pancreatitis in children – A comprehensive analysis of 41 cases

Oracz, Grzegorz, Kolodziejczyk, Elwira, Sobczynska-Tomaszewska, Agnieszka, Wejnarska, Karolina, Dadalski, Maciej, Grabarczyk, Alicja Monika, Kierkus, Jaroslaw, Woynarowski, Marek, Wertheim-Tysarowska,

Journal:

Year:

2016

Language:

english

File:

PDF, 408 KB

english, 2016

10

The etiology and clinical course of chronic pancreatitis in children with the early-onset of the disease

Wejnarska, Karolina, Kolodziejczyk, Elwira, Rygiel, Agnieszka Magdalena, Wertheim-Tysarowska, Katarzyna, Dadalski, Maciej, Sobczynska-Tomaszewska, Agnieszka, Kierkus, Jaroslaw, Bal, Jerzy, Oracz, Grze

Journal:

Year:

2016

Language:

english

File:

PDF, 60 KB

english, 2016

11

The clinical presentation of chronic pancreatitis in children with SPINK1 gene mutations

Wejnarska, Karolina, Kolodziejczyk, Elwira, Rygiel, Agnieszka Magdalena, Wertheim-Tysarowska, Katarzyna, Dadalski, Maciej, Sobczynska-Tomaszewska, Agnieszka, Kierkus, Jaroslaw, Bal, Jerzy, Oracz, Grze

Journal:

Year:

2016

Language:

english

File:

PDF, 46 KB

english, 2016

12

The Etiology and Clinical Course of Chronic Pancreatitis in Children With Early Onset of the Disease

Wejnarska, Karolina, Kolodziejczyk, Elwira, Wertheim-Tysarowska, Katarzyna, Dadalski, Maciej, Sobczynska-Tomaszewska, Agnieszka, Kierkus, Jarosław, Bal, Jerzy, Rygiel, Agnieszka Magdalena, Oracz, Grze

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

13

First patient with hereditary spastic paraplegia type 8 in Poland

Bogucki, Piotr, Sobczyńska-Tomaszewska, Agnieszka

Journal:

Clinical Case Reports

Year:

2017

Language:

english

File:

PDF, 70 KB

english, 2017

14

Etiology Of Chronic Pancreatitis In Children

Oracz, Grzegorz, Wejnarska, Karolina, Rygiel, Agnieszka Magdalena, Kolodziejczyk, Elwira, Sobczynska-Tomaszewska, Agnieszka, Kujko, Aleksandra Anna, Wertheim-Tysarowska, Katarzyna, Kierkus, Jaroslaw

Journal:

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

15

Features of the fetal gonad in androgen synthesis in the postpubertal testis are preserved in complete androgen insensitivity syndrome due to a novel genetic splice site donor variant in androgen receptor gene intron 1

Jarzabek, Katarzyna, Koda, Mariusz, Chrusciel, Marcin, Kanczuga-Koda, Luiza, Sobczynska-Tomaszewska, Agnieszka, Rahman, Nafis A., Wolczynski, Slawomir

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Year:

2019

Language:

english

File:

PDF, 851 KB

english, 2019

16

Features of the fetal gonad in androgen synthesis in the postpubertal testis are preserved in complete androgen insensitivity syndrome due to a novel genetic splice site donor variant in androgen receptor gene intron 1

Jarzabek, Katarzyna, Koda, Mariusz, Chrusciel, Marcin, Kanczuga-Koda, Luiza, Sobczynska-Tomaszewska, Agnieszka, Rahman, Nafis A., Wolczynski, Slawomir

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Year:

2019

File:

PDF, 851 KB

2019

17

Genetic basis of chronic pancreatitis in 300 Polish pediatric patients: An attempt to classify the genotypes into causative and contributory

Rygiel, Agnieszka, Oracz, Grzegorz, Kołodziejczyk, Elwira, Kierkus, Jaroslaw, Niepokoj, Katrzyna, Tomaszewska, Agnieszka Sobczyńska, Bal, Jerzy, Wertheim-Tysarowska, Katarzyna

Journal:

Year:

2019

Language:

english

File:

PDF, 48 KB

english, 2019

18

Genetic basis of chronic pancreatitis in 300 Polish pediatric patients: An attempt to classify the genotypes into causative and contributory

Rygiel, Agnieszka, Oracz, Grzegorz, Kołodziejczyk, Elwira, Kierkus, Jaroslaw, Niepokoj, Katrzyna, Tomaszewska, Agnieszka Sobczyńska, Bal, Jerzy, Wertheim-Tysarowska, Katarzyna

Journal:

Year:

2019

File:

PDF, 48 KB

2019

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