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Ara mostrant els elements 1-20 d 20
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Current Status of Genetic Counselling for Rare Diseases in Spain
(MDPI, 2021-12-09) -
Deletion Syndrome 22q11.2: A Systematic Review
(MDPI, 2022-08-03) -
Leigh syndrome associated with TRMU gene mutations
(Elsevier, 2021-03) -
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis
(Elsevier, 2022-09) -
The European Reference Network for Rare Neurological Diseases
(Frontiers Media, 2021-01) -
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres
(Bioscientifica, 2022-11-14)