Results 131 to 140 of about 32,945 (208)

A Systematic Bioinformatic Analysis of the miRNA Pathway in Inborn Errors of Amino Acid Metabolism Disorders. [PDF]

Mol Syndromol
Bayrak H, Sharafi P, Kılıç M.
europepmc   +1 more source

Pre-vaccination immune signatures of children with inborn errors of immunity associate with COVID-19 vaccine response. [PDF]

Hum Vaccin Immunother
Palma P, Emili E, Pighi C, Colantoni N, Morrocchi E, Pascucci GR, Rivalta B, Rotulo GA, Rossetti C, Santilli V, Zangari P, Manno EC, Sanna M, Finocchi A, Cancrini C, Cicalese MP, Cenciarelli S, Cirillo E, Giardino G, Moschese V, Amodio D, Cotugno N.   +21 more
europepmc   +1 more source

No association between genetic ancestry and exome sequencing-based diagnosis of inborn errors of metabolism. [PDF]

NPJ Genom Med
Najera J, Mavura Y, Adhikari A, Kvale M, Gallagher RC, Risch N.   +5 more
europepmc   +1 more source

Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy. [PDF]

Front Immunol
Szczawińska-Popłonyk A.
europepmc   +1 more source

Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID. [PDF]

Immunotargets Ther
Gualtiero G, Buso H, Coopmans EC, Milito C, Firinu D, Dalm VASH, Cinetto F.   +6 more
europepmc   +1 more source

Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation. [PDF]

World J Transplant
Paulin S, Rajakumar A, Menon J, Shanmugam N, Rela M.   +4 more
europepmc   +1 more source

Impaired mucosal IgA response to SARS-CoV-2 in patients with inborn errors of immunity. [PDF]

Front Immunol
Zuo F, Delavari S, Shokri S, Wang Y, Abolnezhadian F, Iranparast S, Salami F, Sharafian S, Chavoshzadeh Z, Rezaei N, Abolhassani H.   +10 more
europepmc   +1 more source

Pulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights. [PDF]

Life (Basel)
Napiorkowska-Baran K, Cofta S, Treichel P, Tykwinska M, Lis K, Matyja-Bednarczyk A, Szymczak B, Szota M, Slawatycki J, Kulakowski M, Bartuzi Z.   +10 more
europepmc   +1 more source

Correction to: Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis. [PDF]

J Clin Immunol
Lee JK, Jang JH, Kim DR, Shin A, Park JH, Kim YG, Kim JW, Kim YJ, Kang ES.   +8 more
europepmc   +1 more source

Inborn errors of canonical autophagy in neurodegenerative diseases. [PDF]

Hum Mol Genet
Freisem D, Hoenigsperger H, Catanese A, Sparrer KMJ.   +3 more
europepmc   +1 more source