A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

Autor: Novice T; University of Michigan Medical School, University of Michigan, Ann Arbor, MI, USA., Kariminia A; Michael Cuccione Childhood Cancer Research Program, BC Children's Hospital Research Institute, Vancouver, Canada., Del Bel KL; Department of Pediatrics, BC Children's Hospital Research Institute, Vancouver, Canada., Lu H; Department of Pediatrics, BC Children's Hospital Research Institute, Vancouver, Canada., Sharma M; Department of Pediatrics, BC Children's Hospital Research Institute, Vancouver, Canada., Lim CJ; Michael Cuccione Childhood Cancer Research Program, BC Children's Hospital Research Institute, Vancouver, Canada., Read J; Department of Pediatrics, Mott Children's Hospital, University of Michigan, Ann Arbor, MI, USA., Lugt MV; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Mott Children's Hospital, University of Michigan, Ann Arbor, MI, USA., Hannibal MC; Division of Pediatric Genetics, Metabolism & Genomic Medicine, Mott Children's Hospital, University of Michigan, Ann Arbor, MI, USA., O'Dwyer D; Division of Pulmonary and Critical Care Medicine, University of Michigan, Ann Arbor, MI, USA., Hosler M; Division of Allergy and Clinical Immunology, University of Michigan, Ann Arbor, MI, USA., Scharnitz T; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA., Rizzo JM; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA., Zacur J; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA., Priatel J; Department of Pediatrics, BC Children's Hospital Research Institute, Vancouver, Canada., Abdossamadi S; Michael Cuccione Childhood Cancer Research Program, BC Children's Hospital Research Institute, Vancouver, Canada., Bohm A; Michael Cuccione Childhood Cancer Research Program, BC Children's Hospital Research Institute, Vancouver, Canada., Junker A; Division of Clinical Immunology & Allergy, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada., Turvey SE; Division of Clinical Immunology & Allergy, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada., Schultz KR; Michael Cuccione Childhood Cancer Research Program, BC Children's Hospital Research Institute, Vancouver, Canada.; Division of Pediatric Hematology/Oncology and Bone Marrow Transplant, Department of Pediatrics, BC Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver, Canada., Rozmus J; Michael Cuccione Childhood Cancer Research Program, BC Children's Hospital Research Institute, Vancouver, Canada. jrozmus@cw.bc.ca.; Division of Pediatric Hematology/Oncology and Bone Marrow Transplant, Department of Pediatrics, BC Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver, Canada. jrozmus@cw.bc.ca.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2020 Feb; Vol. 40 (2), pp. 267-276. Date of Electronic Publication: 2019 Dec 19.

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Tritium diffusion in a Li2TiO3 crystal terminated with the (001) surface from first-principles calculations.

Autor: Su, Jin-Yang, Yang, Wen, Zhu, Jia-Hong, Wang, Wei-Hua, Li, Kun, Liu, Shu-Ping, Li, Yong-Tang

Publikováno v: Physical Chemistry Chemical Physics (PCCP); 12/14/2020, Vol. 22 Issue 46, p27206-27213, 8p

Cystic Fibrosis

Autor: Savant A; Tulane University School of Medicine;, Children's Hospital of New Orleans, New Orleans, Louisiana, Lyman B; LSU Health Science Center;, Children's Hospital of New Orleans, New Orleans, Louisiana, Bojanowski C; Tulane University School of Medicine, New Orleans, Louisiana, Upadia J; Tulane University School of Medicine;, Children's Hospital of New Orleans, New Orleans, Louisiana

Publikováno v: 1993.

Clinical Examples in Pediatric Rheumatology

Autor: Christian Huemer, Hermann Girschick

The book provides an introduction to the differential diagnosis and decision-making in pediatric rheumatological diseases through typical and real cases. One of the aspects in the discussion of various case scenarios is the avoidance of errors and er