Associated Papers
Idiopathic Infantile Hypercalcaemia-Genetic, Biochemical and Clinical Outcomes in a Small Cohort.
Amato LA et al.
Clinical Endocrinology, 2025
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Rectal Cancer in a Patient with Bartter Syndrome: A Case Report.
Fujino S et al.
Genes, 2017
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
Andreoletti G et al.
Journal of Medical Genetics, 2017
27811305 (PubMed )
Supplement: jmedgenet-2016-104100supp002.pdf
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