Found: 26
Select item for more details and to access through your institution.
Hypochondroplasia: Molecular Analysis of the Fibroblast Growth Factor Receptor 3 Gene.
- Published in:
- Annals of the New York Academy of Sciences, 1996, v. 785, n. 1, p. 182, doi. 10.1111/j.1749-6632.1996.tb56257.x
- By:
- Publication type:
- Article
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 162, doi. 10.1007/s00439-003-0959-8
- By:
- Publication type:
- Article
Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta.
- Published in:
- Journal of Bone & Mineral Research, 2012, v. 27, n. 5, p. 1142, doi. 10.1002/jbmr.1555
- By:
- Publication type:
- Article
Long-Term Clinical Outcome and Carrier Phenotype in Autosomal Recessive Hypophosphatemia Caused by a Novel DMP1 Mutation.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 10, p. 2165, doi. 10.1002/jbmr.105
- By:
- Publication type:
- Article
Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 6, p. 259, doi. 10.1159/000365898
- By:
- Publication type:
- Article
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major 70A→G mutation of the untranslated RMRP.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 7, p. 439
- By:
- Publication type:
- Article
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 664
- By:
- Publication type:
- Article
The ophthalmological findings in autosomal recessive severe juvenile arteriosclerosis.
- Published in:
- Acta Ophthalmologica (1755375X), 1985, v. 63, n. 2, p. 175, doi. 10.1111/j.1755-3768.1985.tb01531.x
- By:
- Publication type:
- Article
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.845889
- By:
- Publication type:
- Article
HEARING LOSS IN FINNISH ADULTS WITH OSTEOGENESIS IMPERFECTA: A NATIONWIDE SURVEY.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2002, v. 111, n. 10, p. 939, doi. 10.1177/000348940211101014
- By:
- Publication type:
- Article
Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers.
- Published in:
- Prenatal Diagnosis, 1995, v. 15, n. 2, p. 135, doi. 10.1002/pd.1970150205
- By:
- Publication type:
- Article
Identification of a Novel Common Genetic Risk Factor for Lumbar Disk Disease.
- Published in:
- JAMA: Journal of the American Medical Association, 2001, v. 285, n. 14, p. 1843, doi. 10.1001/jama.285.14.1843
- By:
- Publication type:
- Article
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
- Published in:
- Nature Genetics, 2002, v. 30, n. 2, p. 215, doi. 10.1038/ng821
- By:
- Publication type:
- Article
Early prenatal detection of diastrophic dysplasia.
- Published in:
- 1983
- By:
- Publication type:
- journal article
Hearing loss in children with osteogenesis imperfecta.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
- Published in:
- Human Mutation, 2004, v. 24, n. 5, p. 437, doi. 10.1002/humu.20108
- By:
- Publication type:
- Article
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 147, doi. 10.1002/humu.20071
- By:
- Publication type:
- Article
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database (Communicated by Mark H. Paalman) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html)
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 199
- By:
- Publication type:
- Article
Update of the UMD?FBN1 mutation database and creation of an FBN1 polymorphism databaseCommunicated by Mark H. PaalmanThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 199
- By:
- Publication type:
- Article
Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype.
- Published in:
- Human Mutation, 2002, v. 19, n. 1, p. 39, doi. 10.1002/humu.10017
- By:
- Publication type:
- Article
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 383, doi. 10.1002/(SICI)1098-1004(200004)15:4<383::AID-HUMU18>3.0.CO;2-#
- By:
- Publication type:
- Article
HEALTH-RELATED QUALITY OF LIFE AND SOCIOECONOMIC SITUATION AMONG DIASTROPHIC DYSPLASIA PATIENTS IN FINLAND.
- Published in:
- Journal of Rehabilitation Medicine (Stiftelsen Rehabiliteringsinformation), 2013, v. 45, n. 3, p. 308, doi. 10.2340/16501977-1116
- By:
- Publication type:
- Article
Craniofrontonasal dysostosis: variable expression in a three-generation family.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 6, p. 441, doi. 10.1111/j.1399-0004.1990.tb03610.x
- By:
- Publication type:
- Article
Expression of X-linked hypohidrotic ectodermal dysplasia in six males and in their mothers.
- Published in:
- Clinical Genetics, 1985, v. 28, n. 2, p. 136, doi. 10.1111/j.1399-0004.1985.tb00373.x
- By:
- Publication type:
- Article
Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance.
- Published in:
- Clinical Genetics, 1985, v. 28, n. 2, p. 151, doi. 10.1111/j.1399-0004.1985.tb00375.x
- By:
- Publication type:
- Article