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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
J Med Genet. 2023 Nov;60(11):1127-1132. doi: 10.1136/jmg-2022-109119. Epub 2023 Apr 13.
J Med Genet. 2023.
PMID: 37055165
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry.
Ali TM, Linnenkamp BDW, Yamamoto GL, Honjo RS, Cabral de Menezes Filho H, Kim CA, Bertola DR.
Ali TM, et al. Among authors: linnenkamp bdw.
Am J Med Genet A. 2022 May;188(5):1545-1549. doi: 10.1002/ajmg.a.62651. Epub 2022 Jan 12.
Am J Med Genet A. 2022.
PMID: 35019224
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Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool.
Pires LVL, Ribeiro RL, Sousa AM, Linnenkamp BDW, Pontes SE, Teixeira MCTV, Befi-Lopes DM, Honjo RS, Bertola DR, Kim CA.
Pires LVL, et al. Among authors: linnenkamp bdw.
Arq Neuropsiquiatr. 2021 Nov;79(11):950-956. doi: 10.1590/0004-282X-ANP-2020-0450.
Arq Neuropsiquiatr. 2021.
PMID: 34816986
Free article.
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A comprehensive analysis of AHRR gene as a candidate for cleft lip with or without cleft palate.
Linnenkamp BDW, Raskin S, Esposito SE, Herai RH.
Linnenkamp BDW, et al.
Mutat Res Rev Mutat Res. 2020 Jul-Sep;785:108319. doi: 10.1016/j.mrrev.2020.108319. Epub 2020 Jun 5.
Mutat Res Rev Mutat Res. 2020.
PMID: 32800270
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