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101 results

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.
Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH. Petrij F, et al. Among authors: van karnebeek cd, van haeringen a, van ommen gj, van der smagt jj. J Med Genet. 2000 Mar;37(3):168-76. doi: 10.1136/jmg.37.3.168. J Med Genet. 2000. PMID: 10699051 Free PMC article.
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Spentchian M, Merrien Y, Herasse M, Dobbie Z, Gläser D, Holder SE, Ivarsson SA, Kostiner D, Mansour S, Norman A, Roth J, Stipoljev F, Taillemite JL, van der Smagt JJ, Serre JL, Simon-Bouy B, Taillandier A, Mornet E. Spentchian M, et al. Among authors: van der smagt jj. Hum Mutat. 2003 Jul;22(1):105-6. doi: 10.1002/humu.9159. Hum Mutat. 2003. PMID: 12815606
Genetic testing in interstitial lung disease: An international survey.
Terwiel M, Borie R, Crestani B, Galvin L, Bonella F, Fabre A, Froidure A, Griese M, Grutters JC, Johannson K, Kannengiesser C, Kawano-Dourado L, Molina-Molina M, Prasse A, Renzoni EA, van der Smagt J, Poletti V, Antoniou K, van Moorsel CHM. Terwiel M, et al. Respirology. 2022 Sep;27(9):747-757. doi: 10.1111/resp.14303. Epub 2022 Jun 2. Respirology. 2022. PMID: 35652243
Assessment of prenatal karyotypes.
van Der Smagt JJ, Beverstock GC, Breuning MH, Kanhai HH, Vandenbussche FP. van Der Smagt JJ, et al. Hum Reprod. 2000 Jan;15(1):228-30. doi: 10.1093/humrep/15.1.228. Hum Reprod. 2000. PMID: 10611220 No abstract available.
Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only.
Hes FJ, McKee S, Taphoorn MJ, Rehal P, van Der Luijt RB, McMahon R, van Der Smagt JJ, Dow D, Zewald RA, Whittaker J, Lips CJ, MacDonald F, Pearson PL, Maher ER. Hes FJ, et al. Among authors: van der smagt jj, van der luijt rb. J Med Genet. 2000 Dec;37(12):939-43. doi: 10.1136/jmg.37.12.939. J Med Genet. 2000. PMID: 11106358 Free PMC article.
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S. So J, et al. Among authors: van der burgt i, van der smagt jj. Am J Med Genet A. 2005 Jan 1;132A(1):1-7. doi: 10.1002/ajmg.a.30407. Am J Med Genet A. 2005. PMID: 15558842
Bifurcation of the femur with tibial agenesis and additional anomalies.
van de Kamp JM, van der Smagt JJ, Bos CF, van Haeringen A, Hogendoorn PC, Breuning MH. van de Kamp JM, et al. Among authors: van haeringen a, van der smagt jj. Am J Med Genet A. 2005 Sep 15;138(1):45-50. doi: 10.1002/ajmg.a.30918. Am J Med Genet A. 2005. PMID: 16100723 Review.
101 results