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Δευτέρα 12 Οκτωβρίου 2020

 


 Clinical Genetics
Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset
ABSTRACT Characterised by early‐onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin‐dependent kinase‐like 5 gene. Previous efforts to investigate genotype‐phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype‐phenotype relationships for 13 recurrent CDKL5 variants...
Clinical Genetics
Mon Oct 12, 2020 17:49
 Plastic and Reconstructive Surgery - Published Ahead-of-Print
Vascularized Lymph Node Transfer to the Thigh: A Novel Technical Modification
No abstract available
Plastic and Reconstructive Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Persistent fistula of the palate: Cleft surgery meets microsurgery for the next rung of the ladder.
No abstract available
Plastic and Reconstructive Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
The Argument for the Presence of Residents on International Surgical Missions
No abstract available
Plastic and Reconstructive Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
“Botox and Financial Conflicts of Interest”
No abstract available
Plastic and Reconstructive Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Massive, Extended Pedicled Anterolateral Thigh Flap for Abdominal Wall Reconstruction
No abstract available
Plastic and Reconstructive Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
“An innovative method for nasal injury repair after use of CPAP in newborns”
No abstract available
Plastic and Reconstructive Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Heterotopic vs ectopic replantation, what’s the difference?
No abstract available
Plastic and Reconstructive Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
 Parasite
Molecular characterization of Cryptosporidium spp. from patients with diarrhoea in Lusaka, Zambia
Authors: Namwiinga Rozaria Mulunda, Kyoko Hayashida, Junya Yamagishi, Sandie Sianongo, Gilbert Munsaka, Chihiro Sugimoto and Mable Mwale Mutengo.<br />Parasite Vol. 27 , page 53<br />Published online: 13/10/2020<br /> Keywords: Cryptosporidium ; Diarrhoeal disease ; Zambia ; Subtype ; Zoonosis.<img src="http://feeds.feedburner.com/~r/edp_parasite/~4/vF63Xo9_nBE" height="1" width="1" alt=""/>
Parasite
03:00
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