Found: 4
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A Jittery Newborn With an Abnormal Newborn Screen.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1010, doi. 10.1002/ajmg.a.61018
- By:
- Publication type:
- Article
Congenital lumbar hernia–A feature of diabetic embryopathy?
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2243, doi. 10.1002/ajmg.a.40381
- By:
- Publication type:
- Article
Variable phenotype in a novel mutation in PHOX2B.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1705, doi. 10.1002/ajmg.a.38218
- By:
- Publication type:
- Article