Beata Nowakowska

ਨਾਗਰਿਕਤਾ: ਪੋਲੈਂਡ

ਮਾਂ ਬੋਲੀ: ਪੋਲੀ

ਬੋਲੀਆਂ ਵਰਤਦੀਆਂ: ਪੋਲੀ

ਸਿੱਖਿਅਤ ਹੋਏ: University of Warsaw

ਕਾਰੋਬਾਰ: ਖੋਜੀ

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Articles 48

Date

ਸਿਰਲੇਖ

ਲੇਖਕ

2024-05-02

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, T B Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Anna S. Nidhiry, Fiza Jiwani, Ashna Nisal, Arzoo Patel, Aakash Patel, Chelsea Barrows, Yoo-Jin Ha, Madison Strain, Allison Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Ahmed I Marwan, Gia Melikishvili, Hal S. Meltzer, Henry J. Mroczkowski, Elaine Zackai, Sixto García-Miñaúr, Beata Nowakowska, Roger E Stevenson, Maha Zaki, Hope Northrup, Kimberly A Aldinger, Mei Deng, Ian A Glass, Bernice E. Morrow, D M McDonald-McGinn, Simone Sanna-Cherchi
2022-02-16

Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics

Hanna Moczulska, Dariusz Borowski, Bartosz Czuba, Dariusz Borowski, Maciej Borowiec, Mariusz Zimmer, Mirosław Wielgoś, Anna Latos-Bieleńska, Wojciech Cnota, Piotr Kaczmarek, Sebastian Kwiatkowski, Marek Pietryga, Maria M Sasiadek, Piotr Węgrzyn, Agata Wloch, Olga Haus, Beata Nowakowska, Krzysztof Piotrowski, Mariola Ropacka-Lesiak, Lucjusz Jakubowski
2021-03-15

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

Beata Nowakowska, Marta Deperas, Joris R Vermeesch, Anna Kucińska-Chahwan, Ewa Obersztyn
2020-01-31

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review

Anna Kucińska-Chahwan, Julia Bijok, Beata Nowakowska, Grzegorz Panek
2020-05-18

Genetic progression of post-transplant Burkitt-like lymphoma case with 11q-Gain/Loss and MYC amplification

Beata Nowakowska, Barbara Pienkowska-Grela, Grzegorz Rymkiewicz, Renata Woroniecka, Beata Grygalewicz, Zbigniew Bystydzienski, Jolanta Rygier, Natalia Malawska, Anita Borysiuk
2020-11-05

Pan-european landscape of research into neurodevelopmental copy number variants: a survey by the MINDDS consortium

Beata Nowakowska, Anne M Maillard, Marina Mihaljevic, Ann Swillen
2019-02-01

Genetics and epigenetics of autism spectrum disorder-current evidence in the field

Beata Nowakowska
2019-12-11

Null variants in AGRN cause lethal fetal akinesia deformation sequence

Maciej Geremek, Beata Nowakowska, Katarzyna Sobecka, Marta Smyk
2019-07-01

The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency

Beata Nowakowska, Anna Kucińska-Chahwan
2019-09-02

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

Marta Unolt, Molka Kammoun, Beata Nowakowska, Gail E Graham, T B Crowley, Wolfram Demaerel, Maciej Geremek, Elaine Zackai, D M McDonald-McGinn, Joris R Vermeesch
2018-04-02

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

Agnieszka Pollak, Piotr Gasperowicz, Joanna Kosińska, Małgorzata Rydzanicz, Maria M Sasiadek, Rafał Płoski, Beata Nowakowska, Karolina A Pesz
2017-03-27

Targeted prenatal diagnosis of Pallister-Killian syndrome

Anna Kucińska-Chahwan, Julia Bijok, Grzegorz Jakiel, Beata Nowakowska
2017-05-01

Opioid Receptors in Psoriatic Skin: Relationship with Itch

Adam Reich, Paweł Jagodziński, Jacek Szepietowski, Marcin Holysz, Piotr Kupczyk, Edyta Wysokińska, Leon Strzadala, Beata Nowakowska, Dmitry Nevozhay
2017-09-30

Clinical interpretation of copy number variants in the human genome

Beata Nowakowska
2017-01-01

A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report.

Anna Kutkowska-Kazmierczak, Beata Nowakowska
2017-12-01

The 11q-Gain/Loss Aberration Occurs Recurrently in MYC-Negative Burkitt-like Lymphoma With 11q Aberration, as Well as MYC-Positive Burkitt Lymphoma and MYC-Positive High-Grade B-Cell Lymphoma, NOS.

Barbara Pienkowska-Grela, Grzegorz Rymkiewicz, Beata Nowakowska, Renata Woroniecka, Beata Grygalewicz, Zbigniew Bystydzienski, Klaudia Borkowska, Jolanta Rygier, Aleksandra Kotyl
2017-05-12

Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society

Maria M Sasiadek, Dariusz Borowski, Piotr Laudanski, Marek Pietryga, Przemysław Oszukowski, Anna Latos-Bieleńska, Hanna Moczulska, Dariusz Borowski, Maciej Borowiec, Beata Nowakowska, Krzysztof Piotrowski, Mariola Ropacka-Lesiak, Piotr Wegrzyn, Lucjusz Jakubowski, Stanisław Radowicki
2016-01-06

Monoallelic and biallelic deletions of 13q14 in a group of CLL/SLL patients investigated by CGH Haematological Cancer and SNP array (8x60K).

Iwona K. Rzepecka, Martyna Łukasik, Agnieszka Budziłowska, Grzegorz Rymkiewicz, Monika Gos, Beata Nowakowska, Renata Woroniecka, Beata Grygalewicz, Barbara Pienkowska-Grela, Klaudia Borkowska, Jolanta Rygier
2016-01-14

A catalog of hemizygous variation in 127 22q11 deletion patients

Raquel E Gur, Elaine Zackai, Donna M McDonald-McGinn, Joris R Vermeesch, Beata Nowakowska
2016-04-09

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies

Tomasz Gambin, Monika Bekiesińska-Figatowska, Jerzy Bal, James R. Lupski, Richard A Gibbs, Donna Muzny, Beata Nowakowska
2016-03-18

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies

Anna Kutkowska-Kazmierczak, Marek Radkowski, Urszula Demkow, Robert Smigiel, Krzysztof Szczałuba, Beata Nowakowska, Marta Smyk, Ewa Bocian
2016-04-01

[17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome].

Anna Kutkowska-Kazmierczak, Amanda Krzywdzińska, Beata Nowakowska, Kamil Hozyasz, Marta Smyk, Ewa Obersztyn
2015-05-21

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example

Magdalena Ratajska, Karol Czubak, Alina Kuźniacka, Dariusz Wydra, Maciej Stukan, Agnieszka Zmienko, Piotr Kozlowski, Janusz Limon, Beata Nowakowska, Magdalena Koczkowska, Marcin Sniadecki, Izabela Brozek, Katarzyna Klonowska
2015-10-31

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

Martin Zenker, Denny Schanze, Anna Kutkowska-Kazmierczak, Beata Nowakowska, Ewa Obersztyn
2015-01-21

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

Anna Kutkowska-Kazmierczak, Maria M Sasiadek, Robert Smigiel, Krzysztof Szczałuba, Beata Nowakowska, Marta Smyk, Ewa Bocian
2014-05-13

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders

Krzysztof Szczałuba, Marek Radkowski, Urszula Demkow, Agnieszka Ługowska, Beata Nowakowska, Ewa Obersztyn
2014-07-01

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children

Anna Kutkowska-Kazmierczak, Krzysztof Szczałuba, Beata Nowakowska, Marta Smyk, Ewa Bocian, Ewa Obersztyn, Magdalena Bartnik-Głaska
2014-06-30

The influence of non-HLA antibodies directed against angiotensin II type 1 receptor (AT1R) on early renal transplant outcomes

Katarzyna Kościelska-Kasprzak, Dorota Kamińska, Dorota Bartoszek, Agnieszka Hałoń, Marian Klinger, Maria Boratyńska, Marta Myszka, Miroslaw Banasik, Marcelina Żabińska, Beata Nowakowska, Slawomir Zmonarski, Marcin Protasiewicz
2013-12-03

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Tomasz Gambin, Krzysztof Szczałuba, Anna Gambin, Tadeusz Mazurczak, Anna Kutkowska-Kazmierczak, Beata Nowakowska, Ewa Bocian, Ewa Obersztyn, Pawel Stankiewicz, Lech Korniszewski
2013-10-31

The impact of non-HLA antibodies directed against endothelin-1 type A receptors (ETAR) on early renal transplant outcomes

Miroslaw Banasik, Katarzyna Kościelska-Kasprzak, Magdalena Krajewska, Oktawia Mazanowska, Dorota Kamińska, Dorota Bartoszek, Tomasz Dawiskiba, Agnieszka Hałoń, Marian Klinger, Maria Boratyńska, Marta Myszka, Paweł Chudoba, Marcelina Żabińska, Beata Nowakowska
2012

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

Koen Devriendt, Alejandro Sifrim, Georgios A. Pavlopoulos, Joris R Vermeesch, Yves Moreau, Leon-Charles Tranchevent, Beata Nowakowska
2012-07-03

Valproic acid confers functional pluripotency to human amniotic fluid stem cells in a transgene-free approach

Anthony Atala, Hubert Schorle, Pascale V Guillot, Paolo De Coppi, Nicholas M Fisk, Adrian Thrasher, James Adjaye, Joris R Vermeesch, Beata Nowakowska, Sayandip Mukherjee

Human - wd:Q93046353

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