Found: 18
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Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults.
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 9, p. 1734, doi. 10.1002/jbmr.2841
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- Publication type:
- Article
Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 12, p. 842, doi. 10.1038/jhg.2010.112
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- Publication type:
- Article
Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 149, doi. 10.1159/000534772
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- Publication type:
- Article
Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
An ARHGAP25 variant links aberrant Rac1 function to early‐onset skeletal fragility.
- Published in:
- JBMR Plus, 2021, v. 5, n. 7, p. 1, doi. 10.1002/jbm4.10509
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- Publication type:
- Article
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 223, doi. 10.1002/jimd.12446
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- Publication type:
- Article
Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-82
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- Publication type:
- Article
Mutation analysis of the AATF gene in breast cancer families.
- Published in:
- 2009
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- Publication type:
- journal article
Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.
- Published in:
- Breast Cancer Research & Treatment, 2011, v. 130, n. 3, p. 1003, doi. 10.1007/s10549-011-1677-x
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- Publication type:
- Article
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1837, doi. 10.3390/jcm11071837
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- Publication type:
- Article
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63534
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- Publication type:
- Article
Thinking outside "The Box": Case‐based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2636, doi. 10.1002/ajmg.a.62202
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- Publication type:
- Article
Two middle‐aged women with the Finnish variant of muscle‐eye‐brain disease (MEB).
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2481, doi. 10.1002/ajmg.a.61369
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- Publication type:
- Article
Cover Image, Volume 179A, Number 3, March 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. i, doi. 10.1002/ajmg.a.61077
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- Publication type:
- Article
ALG11‐CDG syndrome: Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 498, doi. 10.1002/ajmg.a.61046
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- Publication type:
- Article
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1115, doi. 10.1002/ajmg.a.38131
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- Publication type:
- Article
Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.930
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- Publication type:
- Article
Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4.
- Published in:
- Frontiers in Endocrinology, 2021, v. 11, p. 1, doi. 10.3389/fendo.2021.658137
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- Publication type:
- Article