Results 91 to 100 of about 126,587 (112)

Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective. [PDF]

open access: yesArq Neuropsiquiatr
Horovitz DDG   +7 more
europepmc   +1 more source

Diagnóstico e benefícios para a comunidade na doença genética: contributo da citogenética [PDF]

open access: yes, 2013
Aguiar, J.   +6 more
core  

<i>FMR1</i> RNA interaction with DNMT1 blocks DNA methylation at the <i>FMR1 locus</i>. [PDF]

open access: yesNAR Mol Med
Nobile V   +16 more
europepmc   +1 more source

[Metabolic Dysfunction-Associated Steatotic Liver Disease and its association with prediabetes in adolescents with obesity]. [PDF]

open access: yesRev Med Inst Mex Seguro Soc
Peralta-Cortázar C   +8 more
europepmc   +1 more source

Somatic Mutations in DNA Mismatch Repair Genes, Mutation Rate and Neoantigen Load in Acute Lymphoblastic Leukemia. [PDF]

open access: yesPharmaceuticals (Basel)
Mendiola-Soto DK   +24 more
europepmc   +1 more source

[Ring chromosome 21 syndrome: report of 2 cases]. [PDF]

open access: yesRev Med Inst Mex Seguro Soc
Guzmán-Santiago TA   +9 more
europepmc   +1 more source

Adult Onset of Type 2 Familial Hemophagocytic Lymphohistiocytosis After SARS-CoV-2 Vaccination with an Unusual Neurological Onset: The Great Mimic. [PDF]

open access: yesDiagnostics (Basel)
Bellisario F   +7 more
europepmc   +1 more source

Keeping up the beat of Kleefstra syndrome. [PDF]

open access: yesItal J Pediatr
Marchetti GB   +9 more
europepmc   +1 more source

[Considerations on hypoxia and altitude]. [PDF]

open access: yesRev Med Inst Mex Seguro Soc
Santos-Martínez LE.
europepmc   +1 more source

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