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14
homozygous familial hypercholesterolaemia.pdf
homozygous familial hypercholesterolaemia
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11
Treating homozygous familial hypercholesterolemia in a real-world setting Experiences with lomitapide.pdf
Treatinghomozygous familialhypercholesterolemia real-worldsetting:Experiences lomitapideJeanineRoete
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7
Dysferlinopathy (LGMD2B) a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.pdf
Dysferlinopathy (LGMD2B) a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations
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36
a homozygous mutation in trim36 causes autosomal recessive anencephaly in an indian family.[2017][human molecular geneti.纯合子突变trim36导致常染色体隐性无脑畸形在印度的家庭。.pdf
a homozygous mutation in trim36 causes autosomal recessive anencephaly in an indian family.[2017][human molecular geneti.纯合子突变trim36导致常染色体隐性无脑畸形在印度的家庭。
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37
identification of novel rho homozygous mutation in chinese autosomal recessive retinitis pigmentosa patients (2019).[10.1016j.exer.2019.107726].pdf
identification of novel rho homozygous mutation in chinese autosomal recessive retinitis pigmentosa patients (2019).[10.1016j.exer.2019.107726]
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45
Homozygous loss of DIAPH1 is a novel cause of microcephaly in....pdf
Homozygous loss of DIAPH1 is a novel cause of microcephaly in…
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20
tuberculosis and impaired il-23-dependent ifn-gamma immunity in humans homozygous for a common tyk2 missense variant.[2018][sci immunol][10.1126sci.pdf
tuberculosis and impaired il-23-dependent ifn-gamma immunity in humans homozygous for a common tyk2 missense variant.[2018][sci immunol][10.1126sci
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20
Metabolism of low-density lipoproteins by cultured hepatocytes from normal and homozygous familial hypercholesterolemic subjects.pdf
Metabolism of low-density lipoproteins by cultured hepatocytes from normal and homozygous familial hypercholesterolemic subjects
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20
Consistent SMARCB1 Homozygous Deletions in Epithelioid Sarcoma and in a Subset of Myoepithelial Carcinomas can be Reliably Detected by FISH in Archival Material.pdf
Consistent SMARCB1 Homozygous Deletions in Epithelioid Sarcoma and in a Subset of Myoepithelial Carcinomas can be Reliably Detected by FISH in Archival Material
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