Found: 27
Select item for more details and to access through your institution.
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00422-y
- By:
- Publication type:
- Article
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans.
- Published in:
- EMBO Molecular Medicine, 2024, v. 16, n. 3, p. 596, doi. 10.1038/s44321-024-00035-z
- By:
- Publication type:
- Article
International Undiagnosed Diseases Programs (UDPs): components and outcomes.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02966-1
- By:
- Publication type:
- Article
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders.
- Published in:
- Journal of Bone & Mineral Research, 2023, v. 38, n. 5, p. 692, doi. 10.1002/jbmr.4799
- By:
- Publication type:
- Article
Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.
- Published in:
- JBMR Plus, 2022, v. 6, n. 8, p. 1, doi. 10.1002/jbm4.10660
- By:
- Publication type:
- Article
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1880
- By:
- Publication type:
- Article
Oligogenic Inheritance of Monoallelic TRIP11 , FKBP10 , NEK1 , TBX5 , and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.680838
- By:
- Publication type:
- Article
Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00896
- By:
- Publication type:
- Article
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 2, p. 118, doi. 10.1111/cge.13543
- By:
- Publication type:
- Article
Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 2, p. 354, doi. 10.1111/bjh.15494
- By:
- Publication type:
- Article
Somatic Structural Alterations in Childhood Leukemia Can Be Backtracked in Neonatal Dried Blood Spots by Use of Whole-Genome Sequencing and Digital PCR.
- Published in:
- Clinical Chemistry, 2019, v. 65, n. 2, p. 345, doi. 10.1373/clinchem.2018.293548
- By:
- Publication type:
- Article
Front Cover.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. i, doi. 10.1111/cge.13478
- By:
- Publication type:
- Article
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 528, doi. 10.1111/cge.13448
- By:
- Publication type:
- Article
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility.
- Published in:
- Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00380
- By:
- Publication type:
- Article
High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0193928
- By:
- Publication type:
- Article
Two novel mutations in XYLT2 cause spondyloocular syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3195, doi. 10.1002/ajmg.a.38470
- By:
- Publication type:
- Article
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.
- Published in:
- Journal of Bone & Mineral Research, 2017, v. 32, n. 12, p. 2394, doi. 10.1002/jbmr.3233
- By:
- Publication type:
- Article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility.
- Published in:
- Current Osteoporosis Reports, 2017, v. 15, n. 4, p. 303, doi. 10.1007/s11914-017-0388-6
- By:
- Publication type:
- Article
Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis.
- Published in:
- Pediatric Dermatology, 2017, v. 34, n. 3, p. e140, doi. 10.1111/pde.13095
- By:
- Publication type:
- Article
CRTAP variants in early-onset osteoporosis and recurrent fractures.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 806, doi. 10.1002/ajmg.a.38065
- By:
- Publication type:
- Article
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 8, p. 1577, doi. 10.1002/jbmr.2834
- By:
- Publication type:
- Article
Meiotic recombinations within major histocompatibility complex of human embryos.
- Published in:
- Immunogenetics, 2012, v. 64, n. 11, p. 839, doi. 10.1007/s00251-012-0644-y
- By:
- Publication type:
- Article
Pulmonary Alveolar Microlithiasis with Homozygous c.316G>C (p.G106R) Mutation: A case Report.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Mutations in Influenza A Virus (H5N1) and Possible Limited Spread, Turkey, 2006.
- Published in:
- Emerging Infectious Diseases, 2008, v. 14, n. 3, p. 491, doi. 10.3201/eid1403.061237
- By:
- Publication type:
- Article