Lv4
518 积分 2022-03-21 加入
Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation
1个月前
已完结
A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth
1个月前
已完结
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
2个月前
已完结
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
2个月前
已完结
Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency
2个月前
已完结
Nonclassic Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency: A cohort of 78 patients
2个月前
已完结
Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa
9个月前
已完结
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION
9个月前
已关闭
[Triploidy syndrome: a case report]
9个月前
已关闭
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
9个月前
已完结
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