A. Wawrocka: search on Z-Library

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1

Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment

Skorczyk-Werner, Anna, Wawrocka, Anna, Kochalska, Natalia, Krawczynski, Maciej Robert

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1.07 MB

english, 2018

2

A novelGJA1missense mutation in a Polish child with oculodentodigital dysplasia

A. Jamsheer, M. Wiśniewska, A. Szpak, G. Bugaj, M. R. Krawczyński, B. Budny, A. Wawrocka, A. Latos-Bieleńska

Journal:

Journal of Applied Genetics

Year:

2009

Language:

english

File:

PDF, 365 KB

english, 2009

3

The effect of captopril on histamine release from purified rat mast cells

M. Wawrocka-Pawlak, R. Dąbrowski

Journal:

Inflammation Research

Year:

1999

Language:

english

File:

PDF, 125 KB

english, 1999

4

Calcium channel blockers in vivo inhibit serotonin N-acetyltransferase (NAT) activity in chicken retina stimulated by darkness and not by agents elevating intracellular cyclic AMP level

Jolanta B. Zawilska, Marlena Wawrocka, Ewa Zurawska, Jerzy Z. Nowak

Journal:

Journal of Pineal Research

Year:

1992

Language:

english

File:

PDF, 650 KB

english, 1992

5

The effect of calcium ions on captopril-induced histamine release from purified rat mast cells

M. Wawrocka-Pawlak, J. Janus, S. Olczak, R. Dabrowski

Journal:

Pathophysiology

Year:

1998

Language:

english

File:

PDF, 145 KB

english, 1998

6

11p13 deletions can be more frequent than thePAX6gene point mutations in Polish patients with aniridia

Wawrocka, Anna, Sikora, Agata, Kuszel, Lukasz, Krawczynski, Maciej R.

Journal:

Journal of Applied Genetics

Year:

2013

Language:

english

File:

PDF, 219 KB

english, 2013

7

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome

Badura-Stronka, Magdalena, Wawrocka, Anna, Zawieja, Krzysztof, Silska, Sylwia, Krawczyński, Maciej Robert

Journal:

Year:

2013

Language:

english

File:

PDF, 530 KB

english, 2013

8

Two different lineages of bedbug (Cimex lectularius) reflected in host specificity

Wawrocka, Kamila, Bartonička, Tomáš

Journal:

Parasitology Research

Year:

2013

Language:

english

File:

PDF, 351 KB

english, 2013

9

In Kürze

Wawrocka, Kamila, Bartonička, Tomáš

Journal:

Controlling & Management Review

Year:

2013

Language:

german

File:

PDF, 535 KB

german, 2013

10

Intravitreal application of membrane-permeable analogs of cyclic GMP increases serotonin N-acetyltransferase (NAT) activity in retinas of light-exposed chicks: Comparison with the effect of cyclic AMP analogs and darkness

Nowak, Jerzy Z., Wawrocka, Marlena

Journal:

Neuroscience Letters

Year:

1993

Language:

english

File:

PDF, 315 KB

english, 1993

11

Role of cyclic anp in the regulation of serotomin N-acetyltransferase in retina

ZAWILSKA, J, WAWROCKA, M, NOWAK, J

Journal:

Pharmacological Research

Year:

1992

Language:

english

File:

PDF, 111 KB

english, 1992

12

Chick retina and pineal gland differentially respond to constant light and darkness: in vivo studies on serotoninN-acetyltransferase (NAT) activity and melatonin content

Zawilska, Jolanta B., Wawrocka, Marlena

Journal:

Neuroscience Letters

Year:

1993

Language:

english

File:

PDF, 348 KB

english, 1993

13

Effects of GABA and glutamate on melatonin biosynthesis in chicken retina

Nowak, J.Z., Kazula, A., Wawrocka, M., Derbiszewska, T.

Journal:

Neurochemistry International

Year:

1992

Language:

english

File:

PDF, 121 KB

english, 1992

14

Fundus albipunctatus: review of the literature and report of a novelRDH5gene mutation affecting the invariant tyrosine (p.Tyr175Phe)

Skorczyk-Werner, Anna, Pawłowski, Przemysław, Michalczuk, Marta, Warowicka, Alicja, Wawrocka, Anna, Wicher, Katarzyna, Bakunowicz-Łazarczyk, Alina, Krawczyński, Maciej R.

Journal:

Journal of Applied Genetics

Year:

2015

Language:

english

File:

PDF, 2.41 MB

english, 2015

15

Reproduction barrier between two lineages of bed bug (Cimex lectularius) (Heteroptera: Cimicidae)

Wawrocka, Kamila, Balvín, Ondřej, Bartonička, Tomáš

Journal:

Parasitology Research

Year:

2015

Language:

english

File:

PDF, 257 KB

english, 2015

16

PAX6 3′ deletion in a family with aniridia

Wawrocka, Anna, Budny, Bartlomiej, Debicki, Szymon, Jamsheer, Aleksander, Sowinska, Anna, Krawczynski, Maciej Robert

Journal:

Ophthalmic Genetics

Year:

2012

Language:

english

File:

PDF, 755 KB

english, 2012

17

Granular Corneal Dystrophy in 830-nm Spectral Optical Coherence Tomography

Kaluzny, Bartlomiej J, Szkulmowska, Anna, Szkulmowski, Maciej, Bajraszewski, Tomasz, Wawrocka, Anna, Krawczynski, Maciej R, Kowalczyk, Andrzej, Wojtkowski, Maciej

Journal:

Year:

2008

Language:

english

File:

PDF, 4.89 MB

english, 2008

18

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations

Walczak-Sztulpa, Joanna, Wawrocka, Anna, Sobierajewicz, Agata, Kuszel, Lukasz, Zawadzki, Jan, Grenda, Ryszard, Swiader-Lesniak, Anna, Kocyla-Karczmarewicz, Beata, Wnuk, Anna, Latos-Bielenska, Anna, Ch

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 412 KB

english, 2017

19

Co-occurrence of Jalili syndrome and muscular overgrowth

Wawrocka, Anna, Walczak-Sztulpa, Joanna, Badura-Stronka, Magdalena, Owecki, Michal, Kopczynski, Przemysław, Mrukwa-Kominek, Ewa, Skorczyk-Werner, Anna, Gasperowicz, Piotr, Ploski, Rafal, Krawczynski,

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 471 KB

english, 2017

20

Alström syndrome: A case report of the Polish family and a brief review of the differential diagnosis

Wicher, Katarzyna, Bajon, Tomasz, Wawrocka, Anna, Skorczyk-Werner, Anna, Niedziela, Marek, Krawczynski, Maciej Robert

Journal:

Pediatria Polska

Year:

2017

Language:

english

File:

PDF, 664 KB

english, 2017

21

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

Skorczyk-Werner, Anna, Chiang, Wei-Chieh, Wawrocka, Anna, Wicher, Katarzyna, Jarmuż-Szymczak, Małgorzata, Kostrzewska-Poczekaj, Magdalena, Jamsheer, Aleksander, Płoski, Rafał, Rydzanicz, Małgorzata, P

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.13 MB

english, 2017

22

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

Walczak-Sztulpa, Joanna, Wawrocka, Anna, Swiader-Lesniak, Anna, Socha, Magdalena, Jamsheer, Aleksander, Drozdz, Dorota, Latos-Bielenska, Anna, Zachwieja, Katarzyna

Journal:

Birth Defects Research

Year:

2017

Language:

english

File:

PDF, 517 KB

english, 2017

23

The genetics of aniridia — simple things become complicated

Wawrocka, Anna, Krawczynski, Maciej R.

Journal:

Journal of Applied Genetics

Year:

2018

Language:

english

File:

PDF, 946 KB

english, 2018

24

Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome

Wawrocka, Anna, Walczak-Sztulpa, Joanna, Skorczyk-Werner, Anna, Kuszel, Łukasz, Socha, Magdalena, Jamsheer, Aleksander, Krawczynski, Maciej R.

Journal:

Year:

2018

File:

PDF, 289 KB

2018

25

Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome

Wawrocka, Anna, Walczak-Sztulpa, Joanna, Skorczyk-Werner, Anna, Kuszel, Łukasz, Socha, Magdalena, Jamsheer, Aleksander, Krawczynski, Maciej R.

Journal:

Year:

2018

File:

PDF, 289 KB

2018

26

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35

WalczakâSztulpa, Joanna, Wawrocka, Anna, Leszczynska, Beata, Mikulska, Boyana, Arts, Heleen H., BukowskaâOlech, Ewelina, Daniel, Maria, Krawczynski, Maciej R., LatosâBielenska, Anna, Obersztyn,

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.75 MB

2020

27

Nonâsyndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in Xâlinked recessive manner

Wawrocka, Anna, WalczakâSztulpa, Joanna, Pawlak, Marta, GotzâWieckowska, Anna, Krawczynski, Maciej R.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.66 MB

2020

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