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1 . Academic Journal
Epilepsy as a Novel Phenotype of BPTF-Related Disorders
저자
by
Ferretti, Alessandro
;
Furlan, Margherita
;
Glinton, Kevin E.
;
Fenger, Christina D.
;
Boschann, Felix
, et al.
소스
In
Pediatric Neurology
September 2024 158:17-25
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7 . Academic Journal
Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?
저자
by
Yıldız Bölükbaşı, Esra
;
Karolak, Justyna A.
;
Gambin, Tomasz
;
Szafranski, Przemyslaw
;
Deutsch, Gail H.
, et al.
소스
In
European Journal of Medical Genetics
June 2022 65(6)
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7 . Academic Journal
Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe
저자
by
Swierkowska, Joanna
;
Karolak, Justyna A.
;
Gambin, Tomasz
;
Rydzanicz, Malgorzata
;
Frajdenberg, Agata
, et al.
소스
In
Advances in Medical Sciences
March 2021 66(1):192-198
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7 . Academic Journal
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation
저자
by
Towe, Christopher T.
;
White, Frances V.
;
Grady, R. Mark
;
Sweet, Stuart C.
;
Eghtesady, Pirooz
, et al.
소스
In
The Journal of Pediatrics
March 2018 194:158-164
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7 . Academic Journal
P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis
저자
by
Kin Chau, Matthew Hoi
;
Anderson, Stephanie
;
Song, Rodger
;
Cooper, Lance
;
Ward, Patricia
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
Diminished TMEM 100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report.
저자
by
Szafranski, Przemyslaw
;
Patrizi, Silvia
;
Gambin, Tomasz
;
Afzal, Bushra
;
Schlotterbeck, Emily
, et al.
소스
Pediatric & Developmental Pathology; May/Jun2024, Vol. 27 Issue 3, p255-259, 5p
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7 . Academic Journal
Functional performance of aCGH design for clinical cytogenetics
저자
by
Gambin, Tomasz
;
Stankiewicz, Paweł
;
Sykulski, Maciej
;
Gambin, Anna
.
소스
In
Computers in Biology and Medicine
1 July 2013 43(6):775-785
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6 . Academic Journal
Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia.
저자
by
Szafranski, Przemyslaw
;
Garimella, Rijutha P.
;
Mani, Haresh
;
Hartman, Ryan
;
Deutsch, Gail
, et al.
소스
Clinical Epigenetics
. 10/21/2023, Vol. 15 Issue 1, p1-6. 6p.
Open Access (BioMed Central)
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7 . Academic Journal
A Small De Novo CNV Deletion of the Paternal Copy of FOXF1 , Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region.
저자
by
Szafranski, Przemyslaw
;
Stankiewicz, Paweł
.
소스
Non-Coding RNA
. Oct2023, Vol. 9 Issue 5, p61. 7p.
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4 . Academic Journal
Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia.
저자
by
Galambos, Csaba
;
Logan, J. Wells
;
Stankiewicz, Pawel
;
Szafranski, Przemyslaw
;
Zalles, Carola
, et al.
소스
Pediatric Pulmonology; Oct2023, Vol. 58 Issue 10, p2746-2749, 4p
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