Associated Papers
Anesthetic management of a 9-year-old girl with Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay syndrome: airway difficulties and postoperative apnea during tendon surgery.
Santos JG et al.
Anesthesia and Pain Medicine, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China.
Wang Y et al.
Frontiers in Genetics, 2023
Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant.
Liao Z et al.
Frontiers in Pediatrics, 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.
Vivero M et al.
Clinical Genetics, 2017
Select a paper to view details