Congenital Diaphragmatic Hernia
Last Posted: Oct 09, 2021
- Genetics of diaphragmatic hernia.
Schreiner Yannick et al. European journal of human genetics : EJHG 2021 10
- The Role of De Novo Variants in Patients with Congenital Diaphragmatic Hernia.
Bendixen Charlotte et al. Genes 2021 12(9)
- Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Qiao Lu, et al. American journal of human genetics 2021 9
- The Role of
Bendixen Charlotte, et al. Genes 2021 9 (9)
- The influence of genetics in congenital diaphragmatic hernia.
Yu Lan et al. Seminars in perinatology 2019 Aug 151169
- Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.
Zhu Qihui, et al. Proceedings of the National Academy of Sciences of the United States of America 2018 0 (20) 5247-5252
- For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome.
Plachý Luká? et al. Pediatric endocrinology reviews : PER 2018 Sep 16(1) 171-177
- Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
Salzano E et al. American journal of medical genetics. Part A 2018 Oct
- Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.
Kammoun Molka, et al. Prenatal diagnosis 2018 7
- Mutations in BMPR2 are not present in patients with pulmonary hypertension associated with congenital diaphragmatic hernia.
Chiu Joanne S, et al. Journal of pediatric surgery 2017 1
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