Results 291 to 300 of about 1,703,111 (346)

Novel sporadic c.2687G>T (p.Gly896Val) CYLD mutation in multiple trichoepitheliomas. [PDF]

An Bras Dermatol
Atılan AU, Cetin N.
europepmc   +1 more source

Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome. [PDF]

Asian J Androl
Wen X, Fan LJ, Liu P, Shi JH, Zhang WP, Ni X, Gong CX.   +6 more
europepmc   +1 more source

Unveiling Rare Genetic Variants in DAB2IP: New Insights Into the Pathogenesis of Recurrent Angioedema

Allergy, EarlyView.
Maurizio Margaglione, Maria D'Apolito, Rosa Santacroce, Giorgia Cordisco, Francesco Arcoleo, Tiziana De Pasquale, Ilaria Puxeddu, Andrea Zanichelli, Mauro Cancian   +8 more
wiley   +1 more source

Algorithms in Allergy: Hereditary Angioedema

Allergy, EarlyView.
Konrad Bork, Markus Magerl, Emel Aygören‐Pürsün, Henriette Farkas   +3 more
wiley   +1 more source

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A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.

Cell, 1994
E. Puffenberger, K. Hosoda, S. S. Washington, K. Nakao, D. Dewit, M. Yanagisawa, A. Chakravarti   +6 more
semanticscholar   +3 more sources

Predicting Oncogenic Missense Mutations

2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI), 2019
With the rapid progress of cancer genome studies, many missense mutations in populations of somatic cells of different cancer types and at different stages have been identified. However, it is challenging to understand the implications of these cancer-related variants.
Xue, Lei, Boshen, Wang, Alan, Perez-Rathke, Wei, Tian, Chia-Yi, Chou, Yan Yuan, Tseng, Jie, Liang   +6 more
openaire   +2 more sources

Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.

Cancer Cell, 2005
Polycythemia vera (PV), essential thrombocythemia (ET), and myeloid metaplasia with myelofibrosis (MMM) are clonal disorders arising from hematopoietic progenitors.
R. Levine, M. Wadleigh, J. Cools, B. Ebert, G. Wernig, B. Huntly, T. Boggon, I. Wlodarska, Jennifer J. Clark, Sandra A. Moore, Jennifer Adelsperger, Sumin Koo, Jeffrey C. Lee, S. Gabriel, T. Mercher, A. D’Andrea, S. Fröhling, K. Döhner, P. Marynen, P. Vandenberghe, R. Mesa, A. Tefferi, J. Griffin, M. Eck, W. Sellers, M. Meyerson, T. Golub, Stephanie J. Lee, D. Gilliland   +28 more
semanticscholar   +1 more source

Two Novel Missense Mutations in Nonketotic Hyperglycinemia

Journal of Child Neurology, 2014
Nonketotic hyperglycinemia (OMIM no. 605899) is an autosomal recessively inherited glycine encephalopathy, caused by a deficiency in the mitochondrial glycine cleavage system. Here we report 2 neonates who were admitted to the hospital with complaints of respiratory failure and myoclonic seizures with an elevated cerebrospinal fluid/plasma glycine ...
Yilmaz B.S., Kor D., Ceylaner S., Mert G.G., Incecik F., Kartal E., Mungan N.O.   +6 more
openaire   +3 more sources