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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Journal of bone and mineral research, 2011-03, Vol.26 (3), p.666-672

2011

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Dspp-independent Effects of Transgenic Trps1 Overexpression on Dentin Formation

Journal of dental research, 2015-08, Vol.94 (8), p.1128-1134

2015

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Tricho-Rhino-Phalangeal Syndrome with Supernumerary Teeth

Journal of dental research, 2008-11, Vol.87 (11), p.1027-1031

2008

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Mutations in SERPINF1 cause osteogenesis imperfecta type VI

Journal of bone and mineral research, 2011-12, Vol.26 (12), p.2798-2803

2011

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Effect of polymorphism in the LIF gene on reproductive performance of hybrid Polish Large White and Polish Landrace sows

South African Journal of Animal Science, 2014-01, Vol.44 (1), p.49-53

2014

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The presence of germ line mosaicism in cleidocranial dysplasia

Clinical genetics, 2007-06, Vol.71 (6), p.589-591

2007

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Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis‐enhancer

Journal of bone and mineral research, 2011-12, Vol.26 (12), p.2899-2910

2011

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Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice

Journal of bone and mineral research, 2012-08, Vol.27 (8), p.1735-1745

2012

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Localization of the Cis‐Enhancer Element for Mouse Type X Collagen Expression in Hypertrophic Chondrocytes In Vivo

Journal of bone and mineral research, 2009-06, Vol.24 (6), p.1022-1032

2009

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Effect of polymorphism in the LIF gene on reproductive performance of hybrid Polish Large White and Polish Landrace sows : short communication

South African journal of animal science, 2014-01, Vol.44 (1), p.49-53

2014

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Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation

Molecular genetics and metabolism, 2005-09, Vol.86 (1), p.257-268

2005

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Mosaicism in Tuberous Sclerosis as a Potential Cause of the Failure of Molecular Diagnosis

The New England journal of medicine, 1999-03, Vol.340 (9), p.703-707

1999

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Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS

American journal of human genetics, 2005-07, Vol.77 (1), p.161-168

2005

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Short Report: The presence of germ line mosaicism in cleidocranial dysplasia

Clinical genetics, 2007-06, Vol.71 (6), p.589

2007

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Amylose–dye complexes in cationic micelles: an optical spectroscopy study

Carbohydrate research, 1999-01, Vol.315 (1), p.35-47

1999

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Crane-Heise syndrome: A second familial case report with elaboration of phenotype

American journal of medical genetics, 2003-04, Vol.118A (3), p.223-228

2003

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1H-NMR spin-spin relaxation time assessment of the reflection coefficient of the Triticale seed cell wall-plasmalemma barrier to mannitol. [Erratum: July 1997, v. 20 (7), p. 967-968.]

Plant, cell and environment, 1996-12, Vol.19 (12), p.1443-1448

1996

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Molecular Diagnostics of Genetic Diseases: Experience from Studies of DMD, APC, TSC1, and OPG Genes. Part 1

Journal of Clinical Biochemistry and Nutrition, 2000, Vol.28(3), pp.113-127

2000

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Homology of DNA sequences encompassing malignant hyperthermia mutation site in the ovine (Ovis aries) and porcine (Sus scrofa) ryr1 gene

Journal of animal breeding and genetics (1986), 1999-08, Vol.116 (4), p.263-267

1999

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A note on ryanodine receptor gene (ryr1) occurrence in the anserine genome

Journal of Animal and Feed Sciences, 1999-01, Vol.8 (2), p.203-207

1999

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Sequence polymorphism of exon 17 of the ryanodine receptor gene (ryr1) in the Canidae

Journal of Animal and Feed Sciences, 2000-01, Vol.9 (4), p.721-726

2000

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Ovarian Endometrioma in an 11-Year-Old Girl before Menarche: A Case Study with Literature Review

Journal of pediatric & adolescent gynecology, 2012-02, Vol.25 (1), p.e5-e7

2012

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Regulation of human DMD gene expression. An example of multiple utilization of genetic information

Postępy biochemii, 1998, Vol.44 (1), p.48

1998

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Complete Mitochondrial Genomes of Ancient Canids Suggest a European Origin of Domestic Dogs

Science (American Association for the Advancement of Science), 2013-11, Vol.342 (6160), p.871-874

2013

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DNA Triplet Repeat Expansion and Mismatch Repair

Annual review of biochemistry, 2015-01, Vol.84 (1), p.199-226

2015

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Dspp-independent Effects of Transgenic Trps1 Overexpression on Dentin Formation

Tricho-Rhino-Phalangeal Syndrome with Supernumerary Teeth

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

Effect of polymorphism in the LIF gene on reproductive performance of hybrid Polish Large White and Polish Landrace sows

The presence of germ line mosaicism in cleidocranial dysplasia

Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis‐enhancer

Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice

Localization of the Cis‐Enhancer Element for Mouse Type X Collagen Expression in Hypertrophic Chondrocytes In Vivo

Effect of polymorphism in the LIF gene on reproductive performance of hybrid Polish Large White and Polish Landrace sows : short communication

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation

Mosaicism in Tuberous Sclerosis as a Potential Cause of the Failure of Molecular Diagnosis

Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS

Short Report: The presence of germ line mosaicism in cleidocranial dysplasia

Amylose–dye complexes in cationic micelles: an optical spectroscopy study

Crane-Heise syndrome: A second familial case report with elaboration of phenotype

1H-NMR spin-spin relaxation time assessment of the reflection coefficient of the Triticale seed cell wall-plasmalemma barrier to mannitol. [Erratum: July 1997, v. 20 (7), p. 967-968.]

Molecular Diagnostics of Genetic Diseases: Experience from Studies of DMD, APC, TSC1, and OPG Genes. Part 1

Homology of DNA sequences encompassing malignant hyperthermia mutation site in the ovine (Ovis aries) and porcine (Sus scrofa) ryr1 gene

A note on ryanodine receptor gene (ryr1) occurrence in the anserine genome

Sequence polymorphism of exon 17 of the ryanodine receptor gene (ryr1) in the Canidae

Ovarian Endometrioma in an 11-Year-Old Girl before Menarche: A Case Study with Literature Review

Regulation of human DMD gene expression. An example of multiple utilization of genetic information

Complete Mitochondrial Genomes of Ancient Canids Suggest a European Origin of Domestic Dogs

DNA Triplet Repeat Expansion and Mismatch Repair

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