A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia
Abhinav Thakral(University of California San Francisco Medical Center), Robert Wallerstein(University of California, San Francisco), Christina Theodoris(University of California San Francisco Medical Center)
Cited by 0
Related Papers
The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome
|The American Journal of Human Genetics|1999|177
Smoking and alcohol by HPV status in head and neck cancer: a Mendelian randomization study
|Nature Communications|2024|42
National, regional, and global statistics on alcohol consumption and associated burden of disease 2000–20: a modelling study and comparative risk assessment
|The Lancet Public Health|2025|21
EP08.02-082 Treatment Patterns and Outcomes of First-line Osimertinib-treated Advanced EGFR Mutated NSCLC Patients: A Real-world Study
|Journal of Thoracic Oncology|2022|6
TLR4 downregulation protects against cisplatin-induced ototoxicity in adult and pediatric patients with cancer
|Journal of Pharmacology and Experimental Therapeutics|2024|4