IGNATIA VAN DEN VEYVER to Phenotype
This is a "connection" page, showing publications IGNATIA VAN DEN VEYVER has written about Phenotype.
Connection Strength
0.764
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Non-random X chromosome inactivation in Aicardi syndrome. Hum Genet. 2009 Mar; 125(2):211-6.
Score: 0.143
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Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007 Feb; 22(2):176-84.
Score: 0.125
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Lethal phenotypes in Mendelian disorders. Genet Med. 2024 Jul; 26(7):101141.
Score: 0.103
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Exome and genome sequencing in reproductive medicine. Fertil Steril. 2018 02; 109(2):213-220.
Score: 0.067
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Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015 Aug 07; 5(10).
Score: 0.056
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Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). PLoS One. 2012; 7(3):e32331.
Score: 0.045
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Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A. 2005 Oct 15; 138A(3):254-8.
Score: 0.029
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Tooth enamel defects in mice with a deletion at the Arhgap 6/Amel X locus. Calcif Tissue Int. 2005 Jul; 77(1):23-9.
Score: 0.028
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Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet. 2002 Dec 01; 11(25):3237-48.
Score: 0.023
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Mendelian gene identification through mouse embryo viability screening. Genome Med. 2022 10 13; 14(1):119.
Score: 0.023
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Polygenic embryo screening: four clinical considerations warrant further attention. Hum Reprod. 2022 06 30; 37(7):1375-1378.
Score: 0.023
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Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):82-6.
Score: 0.022
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Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec; 23 Suppl 1:S147-51.
Score: 0.022
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Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mamm Genome. 2001 Oct; 12(10):796-8.
Score: 0.022
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 09 28; 10(1):74.
Score: 0.018
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Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am J Med Genet A. 2010 Jul; 152A(7):1825-31.
Score: 0.010
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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000 May; 47(5):670-9.
Score: 0.005