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Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
Am J Hum Genet. 2004 Apr;74(4):777-80. doi: 10.1086/383205.
Am J Hum Genet. 2004.
PMID: 15024694
Free PMC article.
No abstract available.
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
Winnepenninckx B, Errijgers V, Hayez-Delatte F, Reyniers E, Frank Kooy R.
Winnepenninckx B, et al. Among authors: frank kooy r.
Hum Mutat. 2002 Oct;20(4):249-52. doi: 10.1002/humu.10130.
Hum Mutat. 2002.
PMID: 12325019
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Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Ramos-Brossier M, Montani C, Lebrun N, Gritti L, Martin C, Seminatore-Nole C, Toussaint A, Moreno S, Poirier K, Dorseuil O, Chelly J, Hackett A, Gecz J, Bieth E, Faudet A, Heron D, Frank Kooy R, Loeys B, Humeau Y, Sala C, Billuart P.
Ramos-Brossier M, et al. Among authors: frank kooy r.
Hum Mol Genet. 2015 Feb 15;24(4):1106-18. doi: 10.1093/hmg/ddu523. Epub 2014 Oct 9.
Hum Mol Genet. 2015.
PMID: 25305082
Free PMC article.
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Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Beunders G, de Munnik SA, Van der Aa N, Ceulemans B, Voorhoeve E, Groffen AJ, Nillesen WM, Meijers-Heijboer EJ, Frank Kooy R, Yntema HG, Sistermans EA.
Beunders G, et al. Among authors: frank kooy r.
Eur J Hum Genet. 2015 Jun;23(6):803-7. doi: 10.1038/ejhg.2014.173. Epub 2014 Sep 10.
Eur J Hum Genet. 2015.
PMID: 25205402
Free PMC article.
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FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage.
Debacker K, Winnepenninckx B, Ben-Porat N, FitzPatrick D, Van Luijk R, Scheers S, Kerem B, Frank Kooy R.
Debacker K, et al. Among authors: frank kooy r.
J Med Genet. 2007 May;44(5):347-52. doi: 10.1136/jmg.2006.044628.
J Med Genet. 2007.
PMID: 17475918
Free PMC article.
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Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L.
Iqbal Z, et al. Among authors: frank kooy r.
Hum Mol Genet. 2013 May 15;22(10):1960-70. doi: 10.1093/hmg/ddt043. Epub 2013 Feb 5.
Hum Mol Genet. 2013.
PMID: 23390136
Free article.
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