Paweł Gawliński (Pawel Gawlinski, P Gawliński)

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 8

Top Topics

Drosophila Melanogaster

Autism Spectrum Disorder

Transcription Factor

Top Venues

Journal of mother and child

Journal of clinical research in pediatric endocrinology

Orphanet journal of rare diseases

This page only lists publications with an associated author ORCID identifier.

Publications

Mateusz Dawidziuk, Aleksandra Podwysocka, Marta Jurek, Ewa Obersztyn, Monika Bekiesinska-Figatowska, Alicja Goszczanska-Ciuchta, Ewelina Bukowska-Olech, Agnieszka Magdalena Rygiel, Dorothy Lys Guilbride, Wojciech Wiszniewski, Paweł Gawliński
Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism. Journal of applied genetics (2023)
Slawomir Bartoszewski, Mateusz Dawidziuk, Natalia Kasica-Jarosz, Roma Durak, Marta Jurek, Aleksandra Podwysocka, Dorothy Lys Guilbride, Piotr Podlasz, Cecilia Lanny Winata, Paweł Gawliński
A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly. Cells 11 (17) (2022)
Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Ewelina M Olech, Marta Jurek, Ewa Kalka, Dorothy Lys Guilbride, Mariusz Ireneusz Furmanek, Monika Bekiesińska-Figatowska, Jerzy Bal, Paweł Gawliński
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome. International journal of molecular sciences 23 (2) (2022)
Ewelina M Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene. Orphanet journal of rare diseases 16 (1) (2021)
Mateusz Dawidziuk, Tomasz Gambin, Ewelina M Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Piotr Buda, Edyta Budzynska, Jennifer Castaneda, Tatiana Chilarska, Elzbieta Czyzyk, Anna Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, Dorota Gieruszczak-Bialek, Ewelina Glodek-Brzozowska, Alicja Goszczanska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, Barbara Gurda, Anna Jakubiuk-Tomaszuk, Ewa Jamroz, Magdalena Janeczko, Dominika Jedlińska-Pijanowska, Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, Malgorzata Krajewska-Walasek, Katarzyna Kufel, Anna Kutkowska-Kaźmierczak, Agata Lipiec, Dorota Maksym-Gasiorek, Anna Materna-Kiryluk, Hanna Mazurkiewicz, Michał Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, Renata Posmyk, Antoni Pyrkosz, Mariola Rudzka-Dybala, Ryszard Slezak, Marzena Wisniewska, Zofia Zalewska-Miszkurka, Elzbieta Szczepanik, Ewa Obersztyn, Monika Bekiesińska-Figatowska, Paweł Gawliński, Wojciech Wiszniewski
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly. Genes 12 (12) (2021)
Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Paweł Gawliński, Wojciech Wiszniewski, Monika Gos, Piotr Stawiński, Malgorzata Rydzanicz, Joanna Kosińska, Paweł Własienko, Olga Malinowska Kordowska, Magdalena Bartnik-Głaska, Joanna Bernaciak, Krzysztof Szczaluba, Monika Bekiesińska-Figatowska, Ploski Rafal, Jerzy Bal, Sylwia Rzonca-Niewczas
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*). Journal of mother and child 24 (3) (2021)
Paweł Gawliński, M Pelc, E Ciara, S Jhangiani, E Jurkiewicz, T Gambin, A Różdżyńska-Świątkowska, M Dawidziuk, Z H Coban-Akdemir, D L Guilbride, D Muzny, J R Lupski, M Krajewska-Walasek
Phenotype expansion and development in Kosaki overgrowth syndrome. Clinical genetics 93 (4) (2019)
Joanna Oświęcimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca-Niewczas, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Paweł Gawliński
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy Journal of clinical research in pediatric endocrinology 11 (3) (2018)