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Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype.
- Published in:
- Annals of the New York Academy of Sciences, 2017, v. 1402, n. 1, p. 56, doi. 10.1111/nyas.13370
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- Publication type:
- Article
DSM Criteria that Best Differentiate Intellectual Disability from Autism Spectrum Disorder.
- Published in:
- 2017
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- Publication type:
- journal article
Bloom’s Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 4, doi. 10.1159/000452082
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- Publication type:
- Article
Health care utilization and perceptions of health among adolescents and adults with Turner syndrome.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 1, p. 17, doi. 10.1111/j.1399-0004.1995.tb04048.x
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- Publication type:
- Article
A Review of MD STARnet's Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 1, p. 44, doi. 10.1177/0883073818801704
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- Publication type:
- Article
Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.
- Published in:
- Journal of Child Neurology, 2017, v. 32, n. 7, p. 663, doi. 10.1177/0883073817701368
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- Publication type:
- Article
Potential Impact of DSM-5 Criteria on Autism Spectrum Disorder Prevalence Estimates.
- Published in:
- JAMA Psychiatry, 2014, v. 71, n. 3, p. 292, doi. 10.1001/jamapsychiatry.2013.3893
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- Publication type:
- Article
Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000–2011.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 509, doi. 10.1002/ajmg.a.62546
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- Publication type:
- Article
Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997–2011.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1799, doi. 10.1002/ajmg.a.61290
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- Publication type:
- Article
Health supervision for people with Bloom syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1872, doi. 10.1002/ajmg.a.40374
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- Publication type:
- Article
Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2769, doi. 10.1002/ajmg.a.36728
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- Publication type:
- Article
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1850, doi. 10.1002/ajmg.a.36505
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- Publication type:
- Article
Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 687, doi. 10.1002/ajmg.a.35810
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- Publication type:
- Article
Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 70, doi. 10.1002/ajmg.a.35682
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- Publication type:
- Article
Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2393, doi. 10.1002/ajmg.a.35561
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- Publication type:
- Article
Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant.
- Published in:
- Cleft Palate Craniofacial Journal, 2019, v. 56, n. 10, p. 1386, doi. 10.1177/1055665619851642
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- Publication type:
- Article
Left ventricular dysfunction in Duchenne muscular dystrophy.
- Published in:
- 2020
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- Publication type:
- journal article
Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 6, p. 814, doi. 10.1002/mus.24078
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- Publication type:
- Article
Palliative care services in families of males with duchenne muscular dystrophy.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 1, p. 93, doi. 10.1002/mus.22005
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- Publication type:
- Article
Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 19, p. 1419, doi. 10.1002/bdr2.1388
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- Publication type:
- Article
Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population‐based surveillance of major muscular dystrophies at four U.S. sites, 2007–2011.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 19, p. 1404, doi. 10.1002/bdr2.1371
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- Publication type:
- Article
Maternal antihypertensive medication use and selected birth defects in the National Birth Defects Prevention Study.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 19, p. 1433, doi. 10.1002/bdr2.1372
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- Publication type:
- Article
Recognition of clinical characteristics for population‐based surveillance of fetal alcohol syndrome.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 10, p. 851, doi. 10.1002/bdr2.1203
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- Publication type:
- Article
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
- Published in:
- 2003
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- Publication type:
- journal article
Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network.
- Published in:
- 2016
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- Publication type:
- Report
Presentation of Study Results: Kalkbrenner et al. Respond.
- Published in:
- 2012
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- Publication type:
- Journal Article
Presentation of Study Results: Kalkbrenner et al. Respond.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Maternal Smoking during Pregnancy and the Prevalence of Autism Spectrum Disorders, Using Data from the Autism and Developmental Disabilities Monitoring Network.
- Published in:
- Environmental Health Perspectives, 2012, v. 120, n. 7, p. 1042, doi. 10.1289/ehp.1104556
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- Publication type:
- Article
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 1, p. 43, doi. 10.1002/bdr2.2003
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- Publication type:
- Article
Palliative care services in families of males with muscular dystrophy: Data from MD STARnet.
- Published in:
- SAGE Open Medicine, 2019, p. N.PAG, doi. 10.1177/2050312119840518
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- Publication type:
- Article
Palliative care services in families of males with muscular dystrophy: Data from MD STARnet.
- Published in:
- SAGE Open Medicine, 2019, v. 7, p. N.PAG, doi. 10.1177/2050312119840518
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- Publication type:
- Article
THE AUTHORS REPLY.
- Published in:
- American Journal of Epidemiology, 2009, v. 169, n. 11, p. 1406, doi. 10.1093/aje/kwp063
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- Publication type:
- Article
Advanced Parental Age and the Risk of Autism Spectrum Disorder.
- Published in:
- American Journal of Epidemiology, 2008, v. 168, n. 11, p. 1268, doi. 10.1093/aje/kwn250
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- Publication type:
- Article
Poster 452 Risk Factors for Fractures Among Males with Duchenne or Becker Muscular Dystrophy.
- Published in:
- 2012
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- Publication type:
- Abstract
Poster 452 Risk Factors for Fractures Among Males with Duchenne or Becker Muscular Dystrophy
- Published in:
- 2012
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- Publication type:
- Abstract
Use of Complementary and Alternative Medicine by Males With Duchenne or Becker Muscular Dystrophy.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 6, p. 734, doi. 10.1177/0883073811426501
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- Publication type:
- Article
Use of Corticosteroids in a Population-Based Cohort of Boys With Duchenne and Becker Muscular Dystrophy.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 11, p. 1319, doi. 10.1177/0883073810362762
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- Publication type:
- Article
Mutation Analysis in a Population-Based Cohort of Boys With Duchenne or Becker Muscular Dystrophy.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 4, p. 425, doi. 10.1177/0883073808324770
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- Publication type:
- Article
Familial colloid cysts: not a chance occurrence.
- Published in:
- Journal of Neuro-Oncology, 2022, v. 157, n. 2, p. 321, doi. 10.1007/s11060-022-03966-0
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- Publication type:
- Article
Fetal Alcohol Syndrome Among Children Aged 7-9 Years -- Arizona, Colorado, and New York, 2010.
- Published in:
- MMWR: Morbidity & Mortality Weekly Report, 2015, v. 64, n. 3, p. 54
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- Publication type:
- Article
Bloom syndrome patients and mice display accelerated epigenetic aging.
- Published in:
- Aging Cell, 2023, v. 22, n. 10, p. 1, doi. 10.1111/acel.13964
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- Publication type:
- Article
Interstitial deletion of chromosome 2q associated with ovarian dysgenesis.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 5, p. 386, doi. 10.1111/j.1399-0004.1991.tb03047.x
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- Publication type:
- Article