Found: 11
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Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2240, doi. 10.1002/ajmg.a.63227
- By:
- Publication type:
- Article
Challenges in genetic diagnosis, co‐occurrence of 22q11.2 deletion syndrome and Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2505, doi. 10.1002/ajmg.a.62862
- By:
- Publication type:
- Article
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1256, doi. 10.1002/ajmg.a.62089
- By:
- Publication type:
- Article
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 409, doi. 10.1002/ajmg.a.61445
- By:
- Publication type:
- Article
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2436, doi. 10.1002/ajmg.a.37823
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- Publication type:
- Article
Down syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 42, doi. 10.1002/ajmg.a.38043
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- Publication type:
- Article
Cover Image, Volume 170A, Number 9, September 2016.
- Published in:
- 2016
- By:
- Publication type:
- Other
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1295, doi. 10.1002/ajmg.a.37570
- By:
- Publication type:
- Article
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1069, doi. 10.1038/sj.ejhg.5201290
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- Publication type:
- Article
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2021, v. 12, n. 1, p. 92, doi. 10.3390/genes12010092
- By:
- Publication type:
- Article