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Molecular analysis of CAG repeat length of the androgen receptor gene and Y chromosome microdeletions among Jordanian azoospermic infertile males
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Published in Brain (London, England : 1878) (19.04.2023)
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ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy
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Published in Brain (London, England : 1878) (2022)
Published in Brain (London, England : 1878) (2022)
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Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort
HAMPSHIRE, Daniel J, BURGHEL, George J, GOUDEMAND, Jenny, BOUVET, Laura C. S, EIKENBOOM, Jeroen C. J, SCHNEPPENHEIM, Reinhard, BUDDE, Ulrich, PEAKE, Ian R, GOODEVE, Anne C
Published in Haematologica (Roma) (01.12.2010)
Published in Haematologica (Roma) (01.12.2010)
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