Found: 42
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Direct Reprogramming of Fibroblasts to Osteoblasts: Techniques and Methodologies.
- Published in:
- Stem Cells Translational Medicine, 2024, v. 13, n. 4, p. 362, doi. 10.1093/stcltm/szad093
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- Publication type:
- Article
Value of a café‐au‐lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto.
- Published in:
- Pediatric Dermatology, 2022, v. 39, n. 2, p. 205, doi. 10.1111/pde.14947
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- Publication type:
- Article
A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease.
- Published in:
- Pediatric Dermatology, 2020, v. 37, n. 5, p. 868, doi. 10.1111/pde.14222
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- Publication type:
- Article
Mosaic Neurofibromatosis Type 1: SickKids' Experience.
- Published in:
- 2014
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- Publication type:
- Abstract
Buschke Ollendorff Syndrome: A Case Series.
- Published in:
- 2014
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- Publication type:
- Abstract
PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 88, n. 3/4, p. 298, doi. 10.1159/000477242
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- Publication type:
- Article
Clinical phenotypes associated with type II collagen mutations.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 2, p. E38, doi. 10.1111/j.1440-1754.2010.01979.x
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- Publication type:
- Article
Unique retinal signaling defect in GNB5-related disease.
- Published in:
- Documenta Ophthalmologica, 2020, v. 140, n. 3, p. 273, doi. 10.1007/s10633-019-09735-1
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- Publication type:
- Article
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
- Published in:
- Human Genetics, 2023, v. 142, n. 11, p. 1571, doi. 10.1007/s00439-023-02598-2
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- Publication type:
- Article
β-Catenin modulation in neurofibromatosis type 1 bone repair: therapeutic implications.
- Published in:
- FASEB Journal, 2016, v. 30, n. 9, p. 3227, doi. 10.1096/fj.201500190RR
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- Publication type:
- Article
Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/5989733
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- Publication type:
- Article
Severe phenotype of X-linked dominant chondrodysplasia punctata.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 9, p. 1435, doi. 10.1002/ccr3.1008
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- Publication type:
- Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
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- Publication type:
- Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
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- Publication type:
- Article
The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations.
- Published in:
- Current Rheumatology Reports, 2014, v. 16, n. 1, p. 1, doi. 10.1007/s11926-013-0394-3
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- Publication type:
- Article
Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy.
- Published in:
- Journal of Dermatology, 2020, v. 47, n. 8, p. 898, doi. 10.1111/1346-8138.15377
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- Publication type:
- Article
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 216, doi. 10.3390/genes14010216
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- Publication type:
- Article
Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.
- Published in:
- Genes, 2022, v. 13, n. 11, p. 2019, doi. 10.3390/genes13112019
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- Publication type:
- Article
Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.
- Published in:
- 2022
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- Publication type:
- Case Study
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1352, doi. 10.3390/genes12091352
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- Publication type:
- Article
Morbus Perthes.
- Published in:
- Praxis (16618157), 2015, v. 104, n. 1, p. 45, doi. 10.1024/1661-8157/a001888
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- Publication type:
- Article
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?
- Published in:
- 2019
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- Publication type:
- journal article
Reduction of New Heterotopic Ossification (HO) in the Open-Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP).
- Published in:
- Journal of Bone & Mineral Research, 2023, v. 38, n. 3, p. 381, doi. 10.1002/jbmr.4762
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- Publication type:
- Article
Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history.
- Published in:
- Archives of Osteoporosis, 2021, v. 16, n. 1, p. 1, doi. 10.1007/s11657-021-00943-4
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- Publication type:
- Article
Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation.
- Published in:
- Pediatric Radiology, 2013, v. 43, n. 9, p. 1190, doi. 10.1007/s00247-013-2684-3
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- Publication type:
- Article
Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66‐year‐old man.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 188, doi. 10.1002/ajmg.c.32053
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- Publication type:
- Article
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
- Published in:
- Therapeutic Advances in Musculoskeletal Disease, 2022, p. 1, doi. 10.1177/1759720X221084848
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- Publication type:
- Article
Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist.
- Published in:
- Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00596-0
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- Publication type:
- Article
Parents' Understanding of Genetics and Heritability.
- Published in:
- Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 541, doi. 10.1007/s10897-016-0021-3
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- Publication type:
- Article
The epileptology of GNB5 encephalopathy.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 11, p. e121, doi. 10.1111/epi.16372
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- Publication type:
- Article
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 5, p. 707, doi. 10.1111/epi.12954
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- Publication type:
- Article
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 510, doi. 10.1002/ajmg.a.63053
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- Publication type:
- Article
ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1619, doi. 10.1002/ajmg.a.62136
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- Publication type:
- Article
Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 663, doi. 10.1002/ajmg.a.61071
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- Publication type:
- Article
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 399, doi. 10.1002/ajmg.a.38530
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- Publication type:
- Article
Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 740, doi. 10.1002/ajmg.a.38066
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- Publication type:
- Article
Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1759, doi. 10.1002/ajmg.a.34056
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- Publication type:
- Article
Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 589, doi. 10.1002/ajmg.a.33499
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- Publication type:
- Article
FGFR3 Mutations and Medial Temporal Lobe Dysgenesis.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 2, p. 211, doi. 10.1177/0883073807300292
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- Publication type:
- Article
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
- Published in:
- 2011
- By:
- Publication type:
- journal article
A genetic mouse model mimicking MET related human osteofibrous dysplasia is characterized by delays in fracture repair and defective osteogenesis.
- Published in:
- FASEB Journal, 2024, v. 38, n. 14, p. 1, doi. 10.1096/fj.202400075RR
- By:
- Publication type:
- Article
Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type‐III.
- Published in:
- FASEB Journal, 2024, v. 38, n. 13, p. 1, doi. 10.1096/fj.202302651RR
- By:
- Publication type:
- Article