Found: 16
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Treacher Collins syndrome.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1999, v. 78, n. 10, p. 752, doi. 10.1177/014556139907801007
- By:
- Publication type:
- Article
CHARGE association.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1999, v. 78, n. 6, p. 413, doi. 10.1177/014556139907800607
- By:
- Publication type:
- Article
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1654, doi. 10.1093/hmg/ddt015
- By:
- Publication type:
- Article
Arrested Epidermal Morphogenesis in Three Newborn Infants With a Fatal Genetic Disorder (Restrictive Dermopathy).
- Published in:
- Journal of Investigative Dermatology, 1987, v. 88, n. 3, p. 330, doi. 10.1111/1523-1747.ep12466219
- By:
- Publication type:
- Article
Literature review: Genetic conditions or anomalies in artworks.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 111, doi. 10.1002/ajmg.c.31886
- By:
- Publication type:
- Article
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1030, doi. 10.1002/ajmg.c.31871
- By:
- Publication type:
- Article
Emotional intelligence in undergraduate medical students: a scoping review.
- Published in:
- Advances in Health Sciences Education, 2022, v. 27, n. 1, p. 167, doi. 10.1007/s10459-021-10079-2
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- Publication type:
- Article
Intellectual disability and genetic influences.
- Published in:
- International Journal on Disability & Human Development (De Gruyter), 2008, v. 7, n. 3, p. 349, doi. 10.1515/ijdhd.2008.7.3.349
- By:
- Publication type:
- Article
Teaching perspectives on the communication of difficult news of genetic conditions to medical students.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 299, doi. 10.1002/ajmg.a.63003
- By:
- Publication type:
- Article
Neonatal Progeriod Syndrome Associated with Biallelic Truncating Variants in POLR3A.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3343, doi. 10.1002/ajmg.a.37960
- By:
- Publication type:
- Article
Update on the Toriello-Carey syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2551, doi. 10.1002/ajmg.a.37735
- By:
- Publication type:
- Article
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1429, doi. 10.1002/ajmg.a.37048
- By:
- Publication type:
- Article
Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 417, doi. 10.1002/ajmg.a.35765
- By:
- Publication type:
- Article
Pancreatic insufficiency in Toriello-Carey syndrome: Report of a second patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1208, doi. 10.1002/ajmg.a.35304
- By:
- Publication type:
- Article
Cover.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2137
- By:
- Publication type:
- Article
A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual.
- Published in:
- 2023
- By:
- Publication type:
- Case Study