Works matching IS 15524868 AND DT 2016 AND VI 172C AND IP 2
Results: 31
Buggies, villi, cornelia, and genes: My extended mentorship with LG Jackson.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 83, doi. 10.1002/ajmg.c.31482
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Laird Jackson: Role model, mentor and friend.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 80, doi. 10.1002/ajmg.c.31483
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Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 138, doi. 10.1002/ajmg.c.31484
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Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 92, doi. 10.1002/ajmg.c.31485
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From picnics in the park to board rooms in the United States and the world: Our journey with Dr. Jackson.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 76, doi. 10.1002/ajmg.c.31486
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Using fetal cells for prenatal diagnosis: History and recent progress.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 123, doi. 10.1002/ajmg.c.31487
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A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 102, doi. 10.1002/ajmg.c.31488
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Cytogenetic highlights and transitions.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 87, doi. 10.1002/ajmg.c.31489
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Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 237, doi. 10.1002/ajmg.c.31500
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Special cases in Cornelia de Lange syndrome: The Spanish experience.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 198, doi. 10.1002/ajmg.c.31501
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Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 206, doi. 10.1002/ajmg.c.31502
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Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 190, doi. 10.1002/ajmg.c.31503
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Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 229, doi. 10.1002/ajmg.c.31504
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Confined placental mosaicism and its impact on confirmation of NIPT results.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 118, doi. 10.1002/ajmg.c.31505
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Cover Image, Volume 172C, Number 2, June 2016.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. i, doi. 10.1002/ajmg.c.31506
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Introduction.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 71, doi. 10.1002/ajmg.c.31507
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- Article
Cytogenetics.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 86, doi. 10.1002/ajmg.c.31508
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- Article
Prenatal Diagnostics.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 117, doi. 10.1002/ajmg.c.31509
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- Article
Table of Contents, Volume 172C, Number 2, June 2016.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 67, doi. 10.1002/ajmg.c.31452
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- Article
Publication schedule for 2016.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 70, doi. 10.1002/ajmg.c.31453
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- Article
The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 129, doi. 10.1002/ajmg.c.31490
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Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 146, doi. 10.1002/ajmg.c.31491
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Genome stability: What we have learned from cohesinopathies.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 171, doi. 10.1002/ajmg.c.31492
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Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 222, doi. 10.1002/ajmg.c.31493
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A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 179, doi. 10.1002/ajmg.c.31494
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NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 163, doi. 10.1002/ajmg.c.31495
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Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 109, doi. 10.1002/ajmg.c.31496
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Sleep disorders in Cornelia de Lange syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 214, doi. 10.1002/ajmg.c.31497
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Characterization of limb differences in children with Cornelia de Lange Syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 155, doi. 10.1002/ajmg.c.31498
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Dr. Laird G. Jackson Festschrift.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 72, doi. 10.1002/ajmg.c.31499
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Cornelia de Lange Syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 128, doi. 10.1002/ajmg.c.31510
- Publication type:
- Article