Tag : Phenotypic

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Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies

Newsemia
Chen, Z; Maroofian, R; Başak, AN; Shingavi, L; Karakaya, M; Efthymiou, S; Gustavsson, EK; … Sarraf, P; + view all Chen, Z; Maroofian, R; Başak,...
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Newsemia
Stamberger, H; Hammer, TB; Gardella, E; Vlaskamp, DRM; Bertelsen, B; Mandelstam, S; de Lange, I; … Scheffer, IE; + view all Stamberger, H; Hammer, TB;...
Cardiology

Predicting Clinical Outcome with Phenotypic Clusters in COVID-19 Pneumonia: An Analysis of 12,066 Hospitalized Patients from the Spanish Registry SEMI-COVID-19.

Newsemia
Related Articles Predicting Clinical Outcome with Phenotypic Clusters in COVID-19 Pneumonia: An Analysis of 12,066 Hospitalized Patients from the Spanish Registry SEMI-COVID-19. J Clin Med....
Cardiology

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Newsemia
Related Articles Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. Am J Med Genet A. 2020...
Cardiology

A proposed lung ultrasound and phenotypic algorithm for the care of COVID-19 patients with acute respiratory failure.

Newsemia
Related Articles A proposed lung ultrasound and phenotypic algorithm for the care of COVID-19 patients with acute respiratory failure. Can J Anaesth. 2020 10;67(10):1393-1404 Authors:...
Dentistry

Phenotypic and genotypic characterization of Streptococcus mutans strains isolated from endodontic infections.

Newsemia
Phenotypic and genotypic characterization of Streptococcus mutans strains isolated from endodontic infections. J Endod. 2020 Sep 10;: Authors: Lima AR, Ganguly T, Walker AR, Acosta...
Neurology

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase (PNPO) deficiency: a scoping review of 87 cases of PNPO deficiency.

Newsemia
Related Articles Phenotypic and molecular spectrum of pyridoxamine-5′-phosphate oxidase (PNPO) deficiency: a scoping review of 87 cases of PNPO deficiency. Clin Genet. 2020 Sep 04;:...
Neurology

Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.

Newsemia
Related Articles Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2020 Sep 05;: Authors: Gana S, Plumari M,...
Cardiology

Cardiac phenotypic spectrum of KCNT1 mutations.

Newsemia
Related Articles Cardiac phenotypic spectrum of KCNT1 mutations. Cardiol Young. 2020 Sep 04;:1-5 Authors: Kohli U, Ravishankar C, Nordli D Abstract We report a 10-month-old...
Biology

Fluctuating environments during early development can limit adult phenotypic flexibility: insights from an amphibious fish [RESEARCH ARTICLE]

Newsemia
Giulia S. Rossi, Paige V. Cochrane, and Patricia A. Wright The interaction between developmental plasticity and the capacity for reversible acclimation (phenotypic flexibility) is poorly...
Latest News

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

Newsemia
Bryant, D; Seda, M; Peskett, E; Maurer, C; Pomeranz, G; Ghosh, M; Hawkins, TA; … Stanier, P; + view all Bryant, D; Seda, M; Peskett,...
AI/ML

Opportunities and Challenges in Phenotypic Screening for Neurodegenerative Disease Research.

Newsemia
Related Articles Opportunities and Challenges in Phenotypic Screening for Neurodegenerative Disease Research. J Med Chem. 2020 03 12;63(5):1823-1840 Authors: Brown DG, Wobst HJ Abstract Toxic...
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Subpopulations of human bone marrow b cells: a phenotypic study.

Newsemia
Chapple, Mary R.; (1992) Subpopulations of human bone marrow b cells: a phenotypic study. Doctoral thesis (M.D.), University College Hospital Medical School. Green open access...
Cardiology

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.

Newsemia
Related Articles Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. Clin Genet. 2020 Aug 02;: Authors: Abdel-Hamid...

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