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UnknownNR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.
Not available
S-EPMC7327499 | biostudies-literature
UnknownSame performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Not available
S-EPMC9349205 | biostudies-literature
UnknownThe diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Not available
S-EPMC8528787 | biostudies-literature
UnknownIncreased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Not available
S-EPMC6777617 | biostudies-literature
UnknownLessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Not available
S-EPMC10801341 | biostudies-literature
UnknownAntibody persistence and immunologic memory after sequential pneumococcal conjugate and polysaccharide vaccination in HIV-infected children on highly active antiretroviral therapy.
Not available
S-EPMC3825555 | biostudies-literature
UnknownImmunogenicity, immunologic memory, and safety following measles revaccination in HIV-infected children receiving highly active antiretroviral therapy.
Not available
S-EPMC3491735 | biostudies-literature
UnknownAutomated identification of leukocyte subsets improves standardization of database-guided expert-supervised diagnostic orientation in acute leukemia: a EuroFlow study.
Not available
S-EPMC7806506 | biostudies-literature
UnknownGenome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Not available
S-EPMC12495801 | biostudies-literature
UnknownDominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Not available
S-EPMC12165858 | biostudies-literature
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