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BMJ Case Reports|July 4, 2012
Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 geneAna Novo, Isabel Couto Guerra, Felisbela Rocha, et al.Bone|January 30, 2026
Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature reviewDaniela Oliveira, Pedro M Almeida, Sofia Franco, et al.Molecular Medicine Reports|May 31, 2018
Concomitant presence of JAK2V617F mutation and BCR‑ABL translocation in two patients: A new entity or a variant of myeloproliferative neoplasms (Case report)Filipa Mousinho, Ana P Azevedo, Tatiana Mendes, et al.Hormone Research in Paediatrics|March 30, 2026
IDIOPATHIC CENTRAL PRECOCIOUS PUBERTY IN BOYS: RESULTS FROM A NATIONAL PORTUGUESE COHORTElisa Galo, Sofia Castro, Daniela Amaral, et al.Journal of Clinical Pathology|October 13, 2017
Atypical haematological presentation in a case of polycythaemia vera with a new variant mutation detected in exon 12: c.1605G>T (p.Met535Ile)Amélia Soraia Andrade Pita, Ana Paula da Silva Azevedo, Alice Reichert, et al.Human Mutation|June 28, 2007
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndromeJan D Marshall, Elizabeth G Hinman, Gayle B Collin, et al.Pageof 2