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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Nature medicine, 2019-04, Vol.25 (4), p.583-590

2019

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Genotype‐Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

Journal of bone and mineral research, 2018-07, Vol.33 (7), p.1377-1378

2018

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A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.198-207

2016

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Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

Orphanet journal of rare diseases, 2016-01, Vol.11 (1), p.1-1, Article 1

2016

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Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

Journal of medical genetics, 2006-01, Vol.43 (1), p.28-38

2006

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Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer

Genes chromosomes & cancer, 2006-07, Vol.45 (7), p.656-667

2006

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Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

Human mutation, 2005-12, Vol.26 (6), p.540-549

2005

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Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH

Genomics (San Diego, Calif.), 2006-08, Vol.88 (2), p.152-162

2006

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Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22qll using high-resolution array-CGH

Genomics (San Diego, Calif.), 2006, Vol.88 (2), p.152-162

2006

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Study of the Blume-Emery-Griffiths model on the triangular lattice by the cluster-variation method

Physica A, 1994-07, Vol.208 (2), p.287-299

1994

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Application of the cluster-variation method to ordering in two-dimensional lattice systems

Grigelionis, Gintautas

1997

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Critical properties of the Blume-Emery-Griffiths model from the coherent-anomaly method

Physica A, 1996-11, Vol.233 (1), p.515-522

1996

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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Genotype‐Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH

Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22qll using high-resolution array-CGH

Study of the Blume-Emery-Griffiths model on the triangular lattice by the cluster-variation method

Application of the cluster-variation method to ordering in two-dimensional lattice systems

Critical properties of the Blume-Emery-Griffiths model from the coherent-anomaly method

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