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PPIB Mutations Cause Severe Osteogenesis Imperfecta
by
van Dijk, Fleur S.
,
Nesbitt, Isabel M.
,
Zwikstra, Eline H.
,
Nikkels, Peter G.J.
,
Piersma, Sander R.
,
Fratantoni, Silvina A.
,
Jimenez, Connie R.
,
Huizer, Margriet
,
Morsman, Alice C.
,
Cobben, Jan M.
,
van Roij, Mirjam H.H.
,
Elting, Mariet W.
,
Verbeke, Jonathan I.M.L.
,
Wijnaendts, Liliane C.D.
,
Shaw, Nick J.
,
Högler, Wolfgang
,
McKeown, Carole
,
Sistermans, Erik A.
,
Dalton, Ann
,
Meijers-Heijboer, Hanne
,
Pals, Gerard
Published in
American journal of human genetics
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Complete COL1A1 allele deletions in osteogenesis imperfecta
by
van Dijk, Fleur S.
,
Huizer, Margriet
,
Kariminejad, Ariana
,
Marcelis, Carlo L.
,
Plomp, Astrid S.
,
Terhal, Paulien A.
,
Meijers-Heijboer, Hanne
,
Weiss, Marjan M.
,
van Rijn, Rick R.
,
Cobben, Jan M.
,
Pals, Gerard
Published in
Genetics in medicine
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American Journal Of Human Genetics
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Female
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Genetics & Heredity
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Osteogenesis Imperfecta - Genetics
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Collagen Type I, Alpha 1 Chain
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