Maciej Krawczyński: search on Z-Library

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1

PCD and RP: X-linked inheritance of both disorders?

Maciej R. Krawczyński, Michał Witt

Journal:

Pediatric Pulmonology

Year:

2004

Language:

english

File:

PDF, 41 KB

english, 2004

2

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

3

Achromatopsia mutations target sequential steps of ATF6 activation

Chiang, Wei-Chieh, Chan, Priscilla, Wissinger, Bernd, Vincent, Ajoy, Skorczyk-Werner, Anna, Krawczyński, Maciej R., Kaufman, Randal J., Tsang, Stephen H., Héon, Elise, Kohl, Susanne, Lin, Jonathan H.

Journal:

Proceedings of the National Academy of Sciences

Year:

2017

Language:

english

File:

PDF, 1000 KB

english, 2017

4

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

5

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

Anna Wozniak, Danuta Wolnik-Brzozowska, Marzena Wisniewska, Renata Glazar, Anna Materna-Kiryluk, Tomasz Moszura, Magdalena Badura-Stronka, Joanna Skolozdrzy, Maciej R Krawczynski, Joanna Zeyland, Wald

Journal:

Year:

2010

Language:

english

File:

PDF, 217 KB

english, 2010

6

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

7

Zespół Klinefeltera: wczesne rozpoznanie szansą na skuteczność terapii zaburzeń rozwojowych

Krawczyński, Marian, Krawczyński, Maciej R.

Journal:

Pediatria Polska

Year:

2010

Language:

polish

File:

PDF, 149 KB

polish, 2010

8

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

9

Zaburzenia rozwojowe: terminologia i klasyfikacja, zakres normy rozwojowej

Krawczyński, Marian, Krawczyński, Maciej R.

Journal:

Pediatria Polska

Year:

2010

Language:

polish

File:

PDF, 140 KB

polish, 2010

10

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

11

A new case of DOOR syndrome

Marzena Wiśniewska, Zofia Siwińska, Michał Felczak, Tomasz Wielkoszyński, Maciej Krawczyński, Anna Latos-Bieleńska

Journal:

Journal of Applied Genetics

Year:

2008

Language:

english

File:

PDF, 134 KB

english, 2008

12

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

13

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

14

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1 – 4 Genes

Rojek, Aleksandra, Krawczynski, Maciej R., Jamsheer, Aleksander, Sowinska-Seidler, Anna, Iwaniszewska, Barbara, Malunowicz, Ewa, Niedziela, Marek

Journal:

International Journal of Endocrinology

Year:

2016

Language:

english

File:

PDF, 1.59 MB

english, 2016

15

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

16

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

17

Zaburzenia rozwojowe: ilościowa i jakościowa skala problemów klinicznych

Krawczyński, Marian, Krawczyński, Maciej R.

Journal:

Pediatria Polska

Year:

2010

Language:

polish

File:

PDF, 181 KB

polish, 2010

18

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

19

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

20

Analysis of Phenotype and Karyotype of Children Born From Mothers With 45,X/46,XX Mosaicism

Czyzyk, Adam, Lacka, Katarzyna, Krawczynski, Maciej R., Andrzejewska, Jolanta, Wojda, Alina, Skołozdrzy, Joanna, Latos-Bielenska, Anna

Journal:

The Endocrinologist

Year:

2010

Language:

english

File:

PDF, 371 KB

english, 2010

21

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe

Ścieżyńska, Aneta, Oziębło, Dominika, Ambroziak, Anna M., Korwin, Magdalena, Szulborski, Kamil, Krawczyński, Maciej, Stawiński, Piotr, Szaflik, Jerzy, Szaflik, Jacek P., Płoski, Rafał, Ołdak, Monika

Journal:

Experimental Eye Research

Year:

2016

Language:

english

File:

PDF, 503 KB

english, 2016

22

Metastasis of basal cell carcinoma to lymph nodes in a patient with Gorlin syndrome – and literature review

Bajon, Tomasz, Adamiak, Ewa, Krawczyński, Maciej

Journal:

Współczesna Onkologia

Year:

2011

File:

PDF, 189 KB

2011

23

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

24

Hypothalamic amenorrhea in a Camurati-Engelmann disease – a case report†

Meczekalski, Blazej, Czyzyk, Adam, Podfigurna-Stopa, Agnieszka, Rydzewski, Bogdan, Sroczynski, Jakub, Lipinska, Małgorzata, Sokalski, Jerzy, Krawczynski, Maciej, Jamsheer, Aleksander, Katulski, Krzysz

Journal:

Gynecological Endocrinology

Year:

2013

Language:

english

File:

PDF, 392 KB

english, 2013

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