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proband
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Curated Studies
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Patients with neuroaxonal injury in cerebral palsy
Lymphoblastoid cells from BUB1B c.2386-11A>G homozygous and heterozygous carriers
Adrenocortical cancer H295R cells expressing CLCN2 wildtype or R172Q mutation
Lymphoblastoid cell cultures from Cornelia de Lange, Alagille, and Roberts syndrome patients
Cardiomyocytes and IPSCs with siRNA-mediated RPL39 or RPS15A knockdown
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Literature
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Proband and the Brother.
Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insi…
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical M…
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Optimized PGT-M Strategy for Patients with No Proband
Prospective, Randomized, Double Blind Comparative Study on the Use of Two Creams in Xerosis Atopic P…
Intrauterine Environment in Polycystic Ovary Syndrome (PCOS) Probands
Neuronal Correlates of Neurexan® Action in Mildly to Moderately Stressed Probands
Penn Family Screening for Familial Hypercholesterolemia
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