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Endokrynologia Polska|February 19, 2009
[The role of bone metabolic markers in qualification for treatment of osteoporosis. Results of POMOST study]Jerzy Przedlacki, Zbigniew Bartoszewicz, Krystyna Ksiezopolska-Orłowska, et al.
The Journal of Pediatrics|May 2, 2017
Lung Transplantation for FLNA-Associated Progressive Lung DiseaseLindsay C Burrage, R Paul Guillerman, Shailendra Das, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
Clinical and molecular characterization of de novo loss of function variants in HNRNPUMagalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, et al.
Human Mutation|September 24, 2017
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotypeLi Chen, Philip J Jensik, Joseph T Alaimo, et al.
Cell Death Discovery|May 29, 2021
A novel BH3-mimetic, AZD0466, targeting BCL-XL and BCL-2 is effective in pre-clinical models of malignant pleural mesotheliomaSurein Arulananda, Megan O'Brien, Marco Evangelista, et al.
Cold Spring Harbor Molecular Case Studies|January 5, 2017
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotypeDiane B Zastrow, Patricia A Zornio, Annika Dries, et al.
Molecular Genetics and Metabolism|July 20, 2014
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 geneLindsay C Burrage, Sha Tang, Jing Wang, et al.
The Journal of Allergy and Clinical Immunology|August 20, 2022
FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopeniaRajarshi Ghosh, Marita Bosticardo, Sunita Singh, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|August 24, 2023
Primary retinal tauopathy: A tauopathy with a distinct molecular patternGrzegorz Walkiewicz, Alicja Ronisz, Rita Van Ginderdeuren, et al.
Plos One|September 9, 2017
Haplotype dependent association of rs7927894 (11q13.5) with atopic dermatitis and chronic allergic rhinitis: A study in ECAP cohortJoanna Kinga Ponińska, Bolesław Samoliński, Aneta Tomaszewska, et al.
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