Obersztyn, E.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Application of metaphase HR-CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features

B. Nowakowska, P. Stankiewicz, E. Obersztyn, Z. Ou, J. Li, A.C. Chinault, M. Smyk, K. Borg, T. Mazurczak, S.W. Cheung, E. Bocian

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 157 KB

english, 2008

2

The mutational spectrum in Waardenburg syndrome

Tassabehji, M., Newton, V. E., Liu, X.-Z., Brady, A., Donnai, D., Krajewska-Walasek, M., Murday, V., Norman, A., Obersztyn, E., Reardon, W., Rice, J. C., Trembath, R., Wieacker, P., Whiteford, M., Win

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.04 MB

english, 1995

3

CAV3 mutation in a patient with transient hyperCKemia and myalgia

Macias, Anna, Gambin, Tomasz, Szafranski, Przemyslaw, Jhangiani, Shalini N., Kolasa, Anna, Obersztyn, Ewa, Lupski, James R., Stankiewicz, Pawel, Kaminska, Anna

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2016

Language:

english

File:

PDF, 972 KB

english, 2016

4

Evaluation of thoracic epidural analgesia in patients undergoing coronary artery bypass surgery – a prospective randomized trial

Obersztyn, Maciej, Trejnowska, Ewa, Nadziakiewicz, Paweł, Knapik, Piotr

Journal:

Polish Journal of Cardio-Thoracic Surgery

Year:

2018

Language:

polish

File:

PDF, 192 KB

polish, 2018

5

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland

Mazurczak, Tadeusz, Bocian, Ewa, Milewski, Michal, Obersztyn, Ewa, Stánczak, Halina, Bal, Jerzy, Szamotulska, Katarzyna, Karwacki, Marek W.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 322 KB

english, 1996

6

Cytogenetic and molecular characterization of two isodicentric Y chromosomes

Paweł Stankiewicz, Zofia Hélias-Rodzewicz, Krystyna Jakubów-Durska, Ewa Bocian, Ewa Obersztyn, Gudrun A. Rappold, Tadeusz Mazurczak

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 258 KB

english, 2001

7

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

K. Szczaluba, K. Hilbert, E. Obersztyn, B. Zabel, T. Mazurczak, K. Kozlowski

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 266 KB

english, 2005

8

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father

M. Smyk, E. Obersztyn, B. Nowakowska, E. Bocian, S.W. Cheung, T. Mazurczak, P. Stankiewicz

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 158 KB

english, 2007

9

A girl with deletion 9q22.1–q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH

Beata Nowakowska, Anna Kutkowska-Kaźmierczak, Paweł Stankiewicz, Ewa Bocian, Ewa Obersztyn, Zhishuo Ou, Sau Wai Cheung, Wei-Wen Cai

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 146 KB

english, 2007

10

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

Katarzyna Borg, Beata Nowakowska, Ewa Obersztyn, Sau Wai Cheung, Joanna Brycz-Witkowska, Lech Korniszewski, Tadeusz Mazurczak, Paweł Stankiewicz, Ewa Bocian

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 198 KB

english, 2007

11

Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections

M. Smyk, E. Obersztyn, B. Nowakowska, M. Nawara, S.W. Cheung, T. Mazurczak, P. Stankiewicz, E. Bocian

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2008

Language:

english

File:

PDF, 260 KB

english, 2008

12

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

Beata A. Nowakowska, Ewa Obersztyn, Krystyna Szymańska, Monika Bekiesińska-Figatowska, Zhilian Xia, Christian B. Ricks, Ewa Bocian, David W. Stockton, Krzysztof Szczałuba, Magdalena Nawara, Ankita Pat

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2010

Language:

english

File:

PDF, 352 KB

english, 2010

13

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8,18, and 21 in three patients

Joanna Pietrzak, Kristin Mrasek, Ewa Obersztyn, Paweł Stankiewicz, Nadezda Kosyakova, Anja Weise, Sau Wai Cheung, Wei Wen Cai, Ferdinand von Eggeling, Tadeusz Mazurczak, Ewa Bocian, Thomas Liehr

Journal:

Journal of Applied Genetics

Year:

2007

Language:

english

File:

PDF, 951 KB

english, 2007

14

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation

Katarzyna Borg, Paweł Stankiewicz, Ewa Bocian, Anna Kruczek, Ewa Obersztyn, James R. Lupski, Tadeusz Mazurczak

Journal:

Year:

2005

Language:

english

File:

PDF, 441 KB

english, 2005

15

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation

Katarzyna Borg, Paweł Stankiewicz, Ewa Bocian, Anna Kruczek, Ewa Obersztyn, James R. Lupski, Tadeusz Mazurczak

Journal:

Year:

2006

Language:

english

File:

PDF, 128 KB

english, 2006

16

Autistic features with speech delay in a girl with an ∼1.5-Mb deletion in 6q16.1, including GPR63 and FUT9

K Derwińska, J Bernaciak, B Wiśniowiecka-Kowalnik, E Obersztyn, E Bocian, P Stankiewicz

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 219 KB

english, 2009

17

Amine fluoride gel in a caries prophylaxis program for soldiers in Poland

Andrzej Obersztyn, Kazimierz Kolwinski

Journal:

Community Dentistry and Oral Epidemiology

Year:

1984

Language:

english

File:

PDF, 2.91 MB

english, 1984

18

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition

Krzysztof Szczałuba, Hanna Mierzewska, Ewa Obersztyn, Jolanta Tryfon, Monika Bekiesińska-Figatowska, Elzbieta Szczepanik, Krystyna Chrzanowska, Ewa Bocian

Journal:

Journal of Applied Genetics

Year:

2012

Language:

english

File:

PDF, 144 KB

english, 2012

19

Hypomyelination, hypogonadotropic hypogonadism, hypodontia – First Polish patient

Monika Bekiesinska-Figatowska, Hanna Mierzewska, Arleta Kuczynska-Zardzewialy, Elzbieta Szczepanik, Ewa Obersztyn

Journal:

Brain and Development

Year:

2010

Language:

english

File:

PDF, 491 KB

english, 2010

20

Speech delay in a girl with deletion of the FUT9 gene

K. Derwinska, J. Bernaciak, E. Obersztyn, P. Stankiewicz, E. Bocian

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 54 KB

english, 2008

21

Duchenne muscular dystrophy (DMD) in a girl with balanced translocation (X;3)(p21.1;p13) and psychomotor delay

E. Obersztyn, K. Szczaluba, M. Smyk, B. Ryniewicz, A. Fidzianska, B. Nowakowska, P. Stankiewicz, E. Bocian, T. Mazurczak

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 57 KB

english, 2008

22

Duplication of the MECP2 genomic region as a cause of mental retardation infive males – application of novel diagnostic techniques

E. Obersztyn, M. Nawara, M. Smyk, B. Nowakowska, K. Szczaluba, P. Stankiewicz, T. Chilarska, E. Bocian, J. Bal, T. Mazurczak

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

23

Effects of stannous fluoride and amine fluorides on caries incidence and enamel solubility in adults

A. Obersztyn, K. Kolwinski, J. Trykowski, S. Starosciak

Journal:

Australian Dental Journal

Year:

1979

Language:

english

File:

PDF, 165 KB

english, 1979

24

High Frequency of GJB2 Gene Mutations in Polish Patients with Prelingual Nonsyndromic Deafness

Wiszniewski, Wojciech, Sobieszczanska-Radoszewska, Lucja, Nowakowska-Szyrwinska, Ewa, Obersztyn, Ewa, Bal, Jerzy

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 60 KB

english, 2001

25

Behavioral studies in spontaneously hypertensive rats

Wojciech Danysz, Adam Płaźnik, Olgierd Puciłowski, Małgorzata Plewako, Marek Obersztyn, Wojciech Kostowski

Journal:

Behavioral and Neural Biology

Year:

1983

Language:

english

File:

PDF, 421 KB

english, 1983

26

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

Bartnik, Magdalena, Derwińska, Katarzyna, Gos, Monika, Obersztyn, Ewa, Kołodziejska, Katarzyna E, Erez, Ayelet, Szpecht-Potocka, Agnieszka, Fang, Ping, Terczyńska, Iwona, Mierzewska, Hanna, Lohr, Naom

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 947 KB

english, 2011

27

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells

Jędrzejowska, Maria, Madej-Pilarczyk, Agnieszka, Fidziańska, Anna, Mierzewska, Hanna, Pronicka, Ewa, Obersztyn, Ewa, Gos, Monika, Pronicki, Maciej, Kmieć, Tomasz, Migdał, Marek, Mierzewska-Schmidt, Ma

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 1.43 MB

english, 2014

28

Experimental Investigation of Factors Causing Resorption of Deciduous Teeth

Journal:

Journal of Dental Research

Year:

1963

Language:

english

File:

PDF, 1.32 MB

english, 1963

29

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

Gos, Monika, Fahiminiya, Somayyeh, Poznański, Jarosław, Klapecki, Jakub, Obersztyn, Ewa, Piotrowicz, Małgorzata, Wierzba, Jolanta, Posmyk, Renata, Bal, Jerzy, Majewski, Jacek

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 229 KB

english, 2014

30

Expanding the phenotype associated with missense mutations of the ARX gene

Charzewska, Agnieszka, Nawara, Magdalena, Jakubiuk-Tomaszuk, Anna, Obersztyn, Ewa, Hoffman-Zacharska, Dorota, Elert, Ewelina, Jurek, Marta, Bartnik, Magdalena, Poznański, Jarosław, Bal, Jerzy

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 361 KB

english, 2013

31

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused byEFTUD2gene mutations

Smigiel, Robert, Bezniakow, Natalia, Jakubiak, Aleksandra, Błoch, Michał, Patkowski, Dariusz, Obersztyn, Ewa, Sasiadek, Maria M.

Journal:

Journal of Applied Genetics

Year:

2015

Language:

english

File:

PDF, 1.23 MB

english, 2015

32

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Carvalho, C. M.B., Zhang, F., Liu, P., Patel, A., Sahoo, T., Bacino, C. A., Shaw, C., Peacock, S., Pursley, A., Tavyev, Y. J., Ramocki, M. B., Nawara, M., Obersztyn, E., Vianna-Morgante, A. M., Stanki

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 568 KB

english, 2009

33

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

Kutkowska-Kaźmierczak, Anna, Niepokój, Katarzyna, Wertheim-Tysarowska, Katarzyna, Giza, Aleksandra, Mordasewicz-Goliszewska, Maria, Bal, Jerzy, Obersztyn, Ewa

Journal:

Journal of Applied Genetics

Year:

2015

Language:

english

File:

PDF, 610 KB

english, 2015

34

Application of Lyophilized Dentin Chips, Mixed with Prednisolone and Neomycin, on Infected Rat Incisor Pulp

Obersztyn, A., Jedrzejczyk, J., Smiechowska, W.

Journal:

Journal of Dental Research

Year:

1968

Language:

english

File:

PDF, 709 KB

english, 1968

35

Healing of Pinpoint Exposure of Rat Incisor Pulp under Various Capping Agents

Journal:

Journal of Dental Research

Year:

1966

Language:

english

File:

PDF, 1.84 MB

english, 1966

36

Pontine tegmental cap dysplasia: A hindbrain malformation caused by defective neuronal migration

Szczaluba, K., Szymanska, K., Bekiesinska-Figatowska, M., Jurkiewicz, E., Madzik, J., Obersztyn, E., Mazurczak, T.

Journal:

Year:

2010

Language:

english

File:

PDF, 187 KB

english, 2010

37

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting

Charzewska, Agnieszka, Obersztyn, Ewa, Hoffman-Zacharska, Dorota, Lenart, Jacek, Poznański, Jarosław, Bal, Jerzy

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2015

Language:

english

File:

PDF, 754 KB

english, 2015

38

Genetyczne podłoże zespołu Ushera w kontekście patologii molekularnej narządu słuchu i wzroku

Kujko, Aleksandra, Wertheim-Tysarowska, Katarzyna, Obersztyn, Ewa, Siedlecka, Hanna, Nowakowska-Szyrwińska, Ewa, Niepokój, Katarzyna

Journal:

Pediatria Polska

Year:

2016

Language:

polish

File:

PDF, 397 KB

polish, 2016

39

IMMUNIZING PROPERTIES OF ALLOGENEIC DENTAL PULP GRAFTS IN RABBITS

ZALESKI, M., OBERSZTYN, A., RYMASZEWSKA-KOSSAKOWSKA, T., JEDRZEJCZYK, J., SANKOWSKI, A.

Journal:

Transplantation Journal

Year:

1967

File:

PDF, 461 KB

1967

40

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

Hochstenbach, Ron, Nowakowska, Beata, Volleth, Marianne, Ummels, Amber, Kutkowska-Kazmierczak, Anna, Obersztyn, Ewa, Ziemkiewicz, Kamila, Gerloff, Claudia, Schanze, Denny, Zenker, Martin, Muschke, Pet

Journal:

Molecular Syndromology

Year:

2015

Language:

english

File:

PDF, 1.11 MB

english, 2015

41

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

Kutkowska-Kaźmierczak, Anna, Gos, Monika, Obersztyn, Ewa

Journal:

Journal of Applied Genetics

Year:

2018

Language:

english

File:

PDF, 1.25 MB

english, 2018

42

Correction to: Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

Kutkowska-Kaźmierczak, Anna, Gos, Monika, Obersztyn, Ewa

Journal:

Journal of Applied Genetics

Year:

2018

Language:

english

File:

PDF, 668 KB

english, 2018

43

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

Wiszniewski, Wojciech, Gawlinski, Pawel, Gambin, Tomasz, Bekiesinska-Figatowska, Monika, Obersztyn, Ewa, Antczak-Marach, Dorota, Akdemir, Zeynep Hande Coban, Harel, Tamar, Karaca, Ender, Jurek, Marta,

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.13 MB

english, 2018

44

The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

Szymańska, Krystyna, Szczałuba, Krzysztof, Ługowska, Agnieszka, Obersztyn, Ewa, Radkowski, Marek, Nowakowska, Beata A., Kuśmierska, Katarzyna, Tryfon, Jolanta, Demkow, Urszula

Journal:

BioMed Research International

Year:

2014

Language:

english

File:

PDF, 1.13 MB

english, 2014

45

Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab

Rzońca, Sylwia, Gos, Monika, Szopa, Daniel, Sielska-Rotblum, Danuta, Landowska, Aleksandra, Szpecht-Potocka, Agnieszka, Milewski, Michał, Czekajska, Jolanta, Abramowicz, Anna, Obersztyn, Ewa, Maciejko

Journal:

Year:

2016

Language:

english

File:

PDF, 787 KB

english, 2016

46

Fulminant myocarditis treated with high doses of steroids

Rycaj, Jarosław, Obersztyn, Anna, Morzyk, Anita, Białkowski, Jacek

Journal:

Advances in Interventional Cardiology

Year:

2012

Language:

english

File:

PDF, 65 KB

english, 2012

47

Temporary left ventricular assistance for extreme postoperative heart failure in two infants with Bland-White-Garland syndrome

Urbańska, Ewa K., Pawlak, Szymon, Grzybowski, Adam, Śliwka, Joanna, Rycaj, Jarosław, Obersztyn-Zawiślan, Anna, Wierzyk, Arkadiusz, Przybylski, Roman

Journal:

Polish Journal of Cardio-Thoracic Surgery

Year:

2016

File:

PDF, 556 KB

2016

48

E-POSTERS – NEUROPATHIES / ALS – CASE REPORTS

Fraczek, A., Potulska-Chromik, A., Bednarska-Makaruk, M., Sulek, A., Obersztyn, E., Braun-Walicka, N., Ryniewicz, B., Kostera-Pruszczyk, A.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 64 KB

2019

49

Null variants in AGRN cause lethal fetal akinesia deformation sequence

Geremek, Maciej, Dudarewicz, Lech, Obersztyn, Ewa, Paczkowska, Magdalena, Smyk, Marta, Sobecka, Katarzyna, Nowakowska, Beata

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.51 MB

english, 2019

50

Null variants in AGRN cause lethal fetal akinesia deformation sequence

Geremek, Maciej, Dudarewicz, Lech, Obersztyn, Ewa, Paczkowska, Magdalena, Smyk, Marta, Sobecka, Katarzyna, Nowakowska, Beata

Journal:

Clinical Genetics

Year:

2019

File:

PDF, 1.51 MB

2019

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски