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1.
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Am J Hum Genet
; 104(5): 994-1006, 2019 05 02.
Article
in English
| MEDLINE | ID: mdl-31051115
2.
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
Neuropediatrics
; 53(5): 309-320, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35605965
3.
SLC20A1 Is Involved in Urinary Tract and Urorectal Development.
Front Cell Dev Biol
; 8: 567, 2020.
Article
in English
| MEDLINE | ID: mdl-32850778
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