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In-frame deletions of BRCA1 may define critical functional domains.
- Published in:
- Human Genetics, 2000, v. 107, n. 4, p. 385, doi. 10.1007/s004390000372
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- Publication type:
- Article
Evaluation of high resolution gel β<sub>2</sub>-transferrin for detection of cerebrospinal fluid leak.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2013, v. 51, n. 2, p. 311, doi. 10.1515/cclm-2012-0408
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- Publication type:
- Article
An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10.
- Published in:
- Genes, Chromosomes & Cancer, 2000, v. 28, n. 3, p. 300, doi. 10.1002/1098-2264(200007)28:3<300::AID-GCC8>3.0.CO;2-1
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- Article
Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer.
- Published in:
- 2003
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- Publication type:
- journal article
A 4-Year, Open-Label, Multicenter, Randomized Trial of Genotropin® Growth Hormone in Patients with Idiopathic Short Stature: Analysis of 4-Year Data Comparing Efficacy, Efficiency, and Safety between an Individualized, Target-Driven Regimen and Standard Dosing
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 79, doi. 10.1159/000381642
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- Publication type:
- Article
Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 7, p. 471, doi. 10.1002/ajmg.b.32745
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- Publication type:
- Article
Clinical characteristics and treatment patterns with histrelin acetate subcutaneous implants vs. leuprolide injections in children with precocious puberty: a real-world study using a US claims database.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 8, p. 961, doi. 10.1515/jpem-2020-0721
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- Publication type:
- Article
Veganism as a cause of iodine deficient hypothyroidism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 1, p. 91, doi. 10.1515/jpem-2017-0082
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- Publication type:
- Article
Efficacy and Safety of Weekly Somatrogon vs Daily Somatropin in Children With Growth Hormone Deficiency: A Phase 3 Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 7, p. e2717, doi. 10.1210/clinem/dgac220
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- Publication type:
- Article
Random unstimulated pediatric luteinizing hormone levels are not reliable in the assessment of pubertal suppression during histrelin implant therapy.
- Published in:
- International Journal of Pediatric Endocrinology, 2013, v. 2013, n. 1, p. 1, doi. 10.1186/1687-9856-2013-20
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- Publication type:
- Article
Results of a Second Year of Therapy with the 12-Month Histrelin Implant for the Treatment of Central Precocious Puberty.
- Published in:
- International Journal of Pediatric Endocrinology, 2009, p. 1, doi. 10.1155/2009/812517
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- Publication type:
- Article
Elevated Prevalence of 35-44 FMR1 Trinucleotide Repeats in Women With Diminished Ovarian Reserve.
- Published in:
- Reproductive Sciences, 2012, v. 19, n. 11, p. 1226, doi. 10.1177/1933719112446074
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- Publication type:
- Article
Efficacy and Safety of Histrelin Subdermal Implant in Children with Central Precocious Puberty: A Multicenter Trial.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 5, p. 1697, doi. 10.1210/jc.2006-2479
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- Publication type:
- Article
Clinical Laboratory Reports in Molecular Pathology.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2007, v. 131, n. 6, p. 852, doi. 10.5858/2007-131-852-clrimp
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- Publication type:
- Article
A review of the genetics and epigenetics of central precocious puberty.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1029137
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- Publication type:
- Article
Long-Term Continuous Suppression With Once-Yearly Histrelin Subcutaneous Implants for the Treatment of Central Precocious Puberty: A Final Report of a Phase 3 Multicenter Trial.
- Published in:
- 2015
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- Publication type:
- journal article
Restricted IgG-Kappa and Free Alpha-Heavy-Chain Bands in an Asymptomatic 62-Year-Old Man.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 2, p. 265, doi. 10.1373/clinchem.2016.269050
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- Publication type:
- Article
Dimethylsulfoxide-induced changes in a rat prostate adenocarcinoma.
- Published in:
- Prostate, 1985, v. 6, n. 4, p. 329, doi. 10.1002/pros.2990060402
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- Publication type:
- Article
Creatine kinase BB and other markers of prostatic carcinoma.
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- Prostate, 1981, v. 2, n. 1, p. 109, doi. 10.1002/pros.2990020111
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- Publication type:
- Article
Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.
- Published in:
- Human Mutation, 1997, v. 10, n. 2, p. 108, doi. 10.1002/(SICI)1098-1004(1997)10:2<108::AID-HUMU3>3.0.CO;2-G
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- Publication type:
- Article
Identification of a splice site mutation (2789+5 G>A) associated with small amounts of normal CFTRmRNA and mild cystic fibrosis.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 332, doi. 10.1002/(SICI)1098-1004(1997)9:4<332::AID-HUMU5>3.0.CO;2-7
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- Publication type:
- Article
Relatively high prevalence of the CFTR mutations, G85E and 1154insTC.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 95, doi. 10.1002/humu.1380060120
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- Publication type:
- Article
Expression of BRCA1 and FAC1 in human primary breast cancer.
- Published in:
- FASEB Journal, 2007, v. 21, n. 6, p. A754, doi. 10.1096/fasebj.21.6.a754-a
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- Publication type:
- Article
+ACA BRCA1 promoter polymorphism occurs frequently in the general population.
- Published in:
- FASEB Journal, 2007, v. 21, n. 6, p. A753
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- Publication type:
- Article
Beyond the micro/macro distinction.
- Published in:
- European Journal of Political Research, 1991, v. 19, n. 4, p. 375, doi. 10.1111/j.1475-6765.1991.tb01193.x
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- Publication type:
- Article
The Ideological Mediation of Party-political Responses to Social Change.
- Published in:
- European Journal of Political Research, 1985, v. 13, n. 1, p. 69, doi. 10.1111/j.1475-6765.1985.tb00110.x
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- Publication type:
- Article
Evaluation of the American-English Quality of Life in Short Stature Youth (QoLISSY) questionnaire in the United States.
- Published in:
- Health & Quality of Life Outcomes, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12955-015-0236-2
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- Publication type:
- Article
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 6, p. 975
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- Publication type:
- Article