Results 301 to 310 of about 639,109 (351)

Expansion of Splice-Switching Therapy with Antisense Oligonucleotides. [PDF]

Int J Mol Sci
Takeshima Y.
europepmc   +1 more source

Genetic Landscape and Mitochondrial Metabolic Dysregulation in Patients Suffering From Severe Long COVID. [PDF]

J Med Virol
Hansen KS, Jørgensen SE, Cömert C, Schiøttz-Christensen B, Bross P, Agergaard J, Leth S, Østergaard L, Palmfeldt J, Olsen RKJ, Mogensen TH.   +10 more
europepmc   +1 more source

Nutritional Management of Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Couce ML, Vitoria I.
europepmc   +1 more source

Genética Médica y personalidades mundiales: personajes con enfermedades de causa genética o errores en la morfogénesis

Revista de Ciencias Médicas de Pinar del Río
Estela Morales Peralta, Miguel Alfonso Alvarez Fornaris   +1 more
doaj  

Case report: novel NFKB2 variant associated with pediatric eosinophilic granulomatosis with polyangiitis (EGPA) in the COVID-19 pandemic. [PDF]

Pediatr Rheumatol Online J
Lin L, Peng X, Chen L, Dong L, Zhong L.
europepmc   +1 more source

Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening. [PDF]

Front Public Health
Lai G, Gu Q, Lai Z, Chen H, Tu X, Chen J, Huang J.   +6 more
europepmc   +1 more source

Clinical evaluation of determinations of free and serum protein bound triiodthyronine (dextran gel filtration) [PDF]

, 1965
Heinze, H. G., Landgraf, R., Schwarz, K., Scriba, Peter Christian   +3 more
core  

Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention

ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou, Yu Wu, Guoran Li, Yongwen Qin, Man Qi, Zhitao Jin   +5 more
wiley   +1 more source

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism

Bender A, Ranea-Robles P, Williams EG, Mirzaian M, Heimel JA, Levelt CN, Wanders RJ, Aerts JM, Zhu J, Auwerx J, Houten SM, Argmann CA.   +11 more
europepmc   +1 more source

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Inborn errors of immunity: an expanding universe of disease and genetic architecture

Nature Reviews Genetics, 2023
Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discuss evidence that IEIs need not be rare disorders or exclusively affect the immune system.
Yemsratch T. Akalu, Dusan Bogunovic
openaire   +2 more sources