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Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis.
Clin Genet. 2022 Apr;101(4):476-478. doi: 10.1111/cge.14118. Epub 2022 Feb 9.
Clin Genet. 2022.
PMID: 35137400
No abstract available.
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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Challenges and Applications of Genetic Testing in Dilated Cardiomyopathy: Genotype, Phenotype and Clinical Implications.
Furquim SR, Linnenkamp B, Olivetti NQS, Giugni FR, Lipari LFVP, Andrade FA, Krieger JE.
Furquim SR, et al. Among authors: linnenkamp b.
Arq Bras Cardiol. 2023 Nov;120(10):e20230174. doi: 10.36660/abc.20230174.
Arq Bras Cardiol. 2023.
PMID: 38055534
Free PMC article.
English, Portuguese.
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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
Di Lazzaro Filho R, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warman M, Passos-Bueno MR, Hoch NC, Bertola DR.
Di Lazzaro Filho R, et al. Among authors: linnenkamp bdw.
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
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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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