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Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 4, p. 318, doi. 10.1111/cge.12352
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- Article
Strategies for exome and genome sequence data analysis in disease-gene discovery projects.
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- Clinical Genetics, 2011, v. 80, n. 2, p. 127, doi. 10.1111/j.1399-0004.2011.01713.x
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- Article
The Human Phenotype Ontology.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 6, p. 525, doi. 10.1111/j.1399-0004.2010.01436.x
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- Article
The brachydactylies: a molecular disease family.
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- Clinical Genetics, 2009, v. 76, n. 2, p. 123, doi. 10.1111/j.1399-0004.2009.01238.x
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- Publication type:
- Article
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 4, p. 375, doi. 10.1111/j.1399-0004.2009.01167.x
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- Publication type:
- Article
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 560, doi. 10.1111/j.1399-0004.2008.01050.x
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- Article
Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin.
- Published in:
- 2008
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- Publication type:
- journal article
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1070, doi. 10.1038/ejhg.2008.73
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- Article
A complex phenotype with cystic renal disease.
- Published in:
- Kidney International, 2006, v. 70, n. 9, p. 1656, doi. 10.1038/sj.ki.5001746
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- Article
Detection of hepatitis B virus DNA in the liver of children with chronic hepatitis B by in situ hybridization and its relation to other viral markers.
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- 1992
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- Publication type:
- journal article
Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis.
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- British Journal of Dermatology, 2013, v. 168, n. 6, p. 1353, doi. 10.1111/bjd.12151
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- Publication type:
- Article
Das 2q37-Deletionssyndrom.
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- Medizinische Genetik, 2012, v. 24, n. 1, p. 40, doi. 10.1007/s11825-012-0318-z
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- Publication type:
- Article
Neue Wege in der bioinformatischen Phänotypanalyse.
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- Medizinische Genetik, 2010, v. 22, n. 2, p. 221, doi. 10.1007/s11825-010-0215-2
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- Publication type:
- Article
Mouse mutant 'rib-vertebrae' ( rv): A defect in somite polarity.
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- Developmental Dynamics, 2000, v. 219, n. 2, p. 192, doi. 10.1002/1097-0177(2000)9999:9999<::AID-DVDY1046>3.0.CO;2-9
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- Publication type:
- Article
Developmental expression of human cartilage matrix protein.
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- Developmental Dynamics, 1994, v. 199, n. 3, p. 241, doi. 10.1002/aja.1001990308
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- Publication type:
- Article
Osteoimmunologie - IMMUNOBONE.
- Published in:
- Zeitschrift für Rheumatologie, 2018, v. 77, p. 12, doi. 10.1007/s00393-018-0455-0
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- Publication type:
- Article
Cleidocranial Dysplasia in Mice.
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- Annals of the New York Academy of Sciences, 1996, v. 785, n. 1, p. 301, doi. 10.1111/j.1749-6632.1996.tb56290.x
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- Publication type:
- Article
Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2.
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- Osteoporosis International, 2018, v. 29, n. 7, p. 1643, doi. 10.1007/s00198-018-4499-4
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- Article
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.
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- 2018
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- Publication type:
- Report
New Methods for Assessment of Enzyme Activity: Do They Help to Optimize Enzyme Treatment?
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- Digestion, 1993, v. 54, n. S2, p. 3, doi. 10.1159/000201095
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- Publication type:
- Article
The Liebenberg syndrome: in depth analysis of the original family.
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- Journal of Hand Surgery (17531934), 2014, v. 39, n. 9, p. 919, doi. 10.1177/1753193413502162
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- Publication type:
- Article