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Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5.
Neurology. 2023.
PMID: 37407264
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.
Wente S, Schröder S, Buckard J, Büttel HM, von Deimling F, Diener W, Häussler M, Hübschle S, Kinder S, Kurlemann G, Kretzschmar C, Lingen M, Maroske W, Mundt D, Sánchez-Albisua I, Seeger J, Toelle SP, Boltshauser E, Brockmann K.
Wente S, et al. Among authors: von deimling f.
Orphanet J Rare Dis. 2016 Jul 29;11(1):104. doi: 10.1186/s13023-016-0486-z.
Orphanet J Rare Dis. 2016.
PMID: 27473762
Free PMC article.
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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M.
Kouz K, et al. Among authors: von deimling f.
Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21.
Genet Med. 2016.
PMID: 27101134
Free article.
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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D.
Voigt C, et al. Among authors: von deimling f.
Orphanet J Rare Dis. 2013 Jul 24;8:110. doi: 10.1186/1750-1172-8-110.
Orphanet J Rare Dis. 2013.
PMID: 23879989
Free PMC article.
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Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bönnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Privé GG, Hannink M, Nürnberg P, Voit T.
Cirak S, et al. Among authors: von deimling f.
Brain. 2010 Jul;133(Pt 7):2123-35. doi: 10.1093/brain/awq108. Epub 2010 Jun 16.
Brain. 2010.
PMID: 20554658
Free PMC article.
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Management of pneumatosis coli with free intraperitoneal gas mimicking abdominal hollow organ perforation in a 13-year-old patient following bone marrow transplantation.
Ruh J, Testa G, Von Deimling F, Schaper J, Kremens B, Broelsch CE.
Ruh J, et al. Among authors: von deimling f.
Dig Dis Sci. 2003 Aug;48(8):1542-4. doi: 10.1023/a:1024867808219.
Dig Dis Sci. 2003.
PMID: 12924650
No abstract available.
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Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma.
von Deimling F, Scharf JM, Liehr T, Rothe M, Kelter AR, Albers P, Dietrich WF, Kunkel LM, Wernert N, Wirth B.
von Deimling F, et al.
Hum Genet. 1999 Jul-Aug;105(1-2):17-27. doi: 10.1007/s004399900067.
Hum Genet. 1999.
PMID: 10480350
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A RsaI polymorphism in the ERCC2 locus.
von Deimling A, von Deimling F, Louis DN, Trofatter J, Gusella JF, Seizinger BR.
von Deimling A, et al. Among authors: von deimling f.
Hum Mol Genet. 1992 Aug;1(5):355. doi: 10.1093/hmg/1.5.355.
Hum Mol Genet. 1992.
PMID: 1363878
No abstract available.
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