Results 131 to 140 of about 7,830 (207)

Genotype/phenotype correlation in hereditary spherocytosis

open access: yesHaematologica, 2008
Achille Iolascon, Rosa Anna Avvisati
doaj   +1 more source

Three novel heterozygous ANK1 loss-of-function variants cause hereditary spherocytosis in Chinese families. [PDF]

open access: yesAnn Hematol
Wang Y   +8 more
europepmc   +1 more source

Severe early-onset osteoporosis due to heterozygous WNT1 variants in adults: a clinical and therapeutic challenge. [PDF]

open access: yesJ Bone Miner Res
Ryhänen EM   +7 more
europepmc   +1 more source

A 34-year-old man with tea-coloured urine. [PDF]

open access: yesCMAJ
Barsanti-Innes B   +3 more
europepmc   +1 more source

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