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1.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36322149
2.
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
Am J Med Genet A
; 173(1): 264-267, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27753196
3.
Tectonic gene mutations in patients with Joubert syndrome.
Eur J Hum Genet
; 23(5): 616-20, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25118024
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