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UnknownLymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9.
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S-EPMC9905590 | biostudies-literature
UnknownGenetic diagnosis for rare diseases in the Dutch Caribbean: a qualitative study on the experiences and associated needs of parents.
Not available
S-EPMC9091230 | biostudies-literature
UnknownDo we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.
Not available
S-EPMC11403852 | biostudies-literature
UnknownNemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.
Not available
S-EPMC3960055 | biostudies-literature
UnknownIdentifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Not available
S-EPMC7209105 | biostudies-literature
UnknownNanopore sequencing enables combined detection of <i>USP7</i> variants and a known Hao-Fountain syndrome episignature.
Not available
S-EPMC12812390 | biostudies-literature
UnknownSTXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.
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S-EPMC8733612 | biostudies-literature
UnknownTreatment of overactive K<sub>ATP</sub> channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantu syndrome.
Not available
S-EPMC12095479 | biostudies-literature
UnknownObesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant.
Not available
S-EPMC9797039 | biostudies-literature
UnknownGenetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.
Not available
S-EPMC12522692 | biostudies-literature
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